Submissions for variant NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)

dbSNP: rs80359306

Total submissions: 55

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000031343	SCV000282363	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2016-04-22	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000043897	SCV000071910	pathogenic	Hereditary breast ovarian cancer syndrome	2024-01-30	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ile605Asnfs*11) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with breast, ovarian, and prostate cancer (PMID: 9150150, 21324516, 21952622, 22535016, 22729890). It has also been observed to segregate with disease in related individuals. This variant is also known as 1813insA, 2041insA, and 2034insA. ClinVar contains an entry for this variant (Variation ID: 37762). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV000131453	SCV000186437	pathogenic	Hereditary cancer-predisposing syndrome	2021-08-25	criteria provided, single submitter	clinical testing	The c.1813dupA pathogenic mutation, located in coding exon 9 of the BRCA2 gene, results from a duplication of A at nucleotide position 1813, causing a translational frameshift with a predicted alternate stop codon (p.I605Nfs*11). This mutation has been detected in multiple individuals with breast, ovarian and prostate cancer from HBOC kindreds (Foretova L et al. Hum. Mutat. 2004 Apr;23:397-8; Janaviius R. EPMA J. 2010 Sept;1:397-412; Zhang S et al. Gynecol. Oncol. 2011 May;121:353-7; Kote-Jarai Z et al. Br. J. Cancer. 2011 Oct;105:1230-4; Carter NJ et al. Gynecol Oncol, 2018 12;151:481-488; Ibrahim M et al. BMC Cancer. 2018 02;18:179; Deng M et al. Int J Cancer, 2019 09;145:1517-1528; Mehemmai C et al. Pathol Oncol Res, 2020 Apr;26:715-726). In one study, this variant was reported in 20/60,466 breast cancer cases and in 1/53,461 controls (Dorling et al. N Engl J Med. 2021 02;384:428-439). This alteration, in compound heterozygosity with another BRCA2 mutation, was also reported in an individual with Fanconi anemia (Myers K et al. Pediatr. Blood Cancer. 2012 Mar;58:462-5). The c.1813dupA pathogenic mutation was reported in two unrelated probands with a personal and/or family history of breast/ovarian cancers and was shown to diminish DNA double strand break repair capacity in response to irradiation (Becker AA et al. Breast Cancer Res. Treat. 2012 Aug;135:167-75). Of note, this mutation is also referred to as 2041insA, 2034insA,and c.1806_1807insA in the published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Michigan Medical Genetics Laboratories, University of Michigan	RCV000031343	SCV000195964	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2014-11-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000160269	SCV000210718	pathogenic	not provided	2020-06-09	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with hereditary breast and ovarian cancer (Frank 1998, Foretova 2004, Tai 2007, Kote-Jarai 2011, Becker 2012, Blay 2013, Pritzlaff 2017, Ibrahim 2018); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 21952622, 22535016, 9150150, 15024741, 18489799, 28324225, 30715675, 21324516, 23683081, 20104584, 25685387, 26834852, 22729890, 27225637, 27167707, 28008555, 22382806, 28873162, 28503720, 28664449, 28651617, 25085752, 23199084, 29433453, 21232165, 15689453, 9667259, 9585613, 25072261, 18042939, 28831036, 28724667, 29909963, 30720863, 28843361, 30014164, 30702160, 30322717, 30309722, 30257646, 21548014, 15070707, 28726808, 31454914, 26689913, 32318955, 31447099, 29176636, 32581362)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768624	SCV000219309	pathogenic	Breast and/or ovarian cancer	2023-06-23	criteria provided, single submitter	clinical testing
Counsyl	RCV000031343	SCV000220297	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2014-05-08	criteria provided, single submitter	literature only
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000160269	SCV000296732	pathogenic	not provided	2023-05-18	criteria provided, single submitter	clinical testing	The BRCA2 c.1813dup (p.Ile605Asnfs*11) variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. This variant has been reported in the published literature in affected individuals with breast and/or ovarian cancer (PMIDs: 9150150 (1997), 21324516 (2011), 22729890 (2012), 28324225 (2017), 30257646 (2018), and 36169650 (2022)). In a large scale breast cancer association study, it was found in individuals with breast cancer as well as a control (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/BRCA2)). It has also been reported in individuals with prostate cancer (PMIDs: 29433453 (2018) and 32606146 (2020)). Based on the available information, this variant is classified as pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000031343	SCV000326619	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-10-02	criteria provided, single submitter	clinical testing
Genologica Medica	RCV000031343	SCV000577948	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2017-01-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000043897	SCV000605784	pathogenic	Hereditary breast ovarian cancer syndrome	2016-02-08	criteria provided, single submitter	clinical testing	The p.Ile605fs variant in BRCA2 has been reported in >75 individuals with BRCA2- associated cancers (Breast Cancer Information Core (BIC) database), and segregat ed with disease in 7 affected relatives from 1 family (Schubert 1997). This vari ant has also been identified in 3/63362 European chromosomes by the Exome Aggreg ation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs80359306); howev er, this frequency is low enough to be consistent with the frequency of heredita ry breast and ovarian cancer (HBOC) in the general population. The p.Ile605fs va riant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 605 and leads to a premature termination codon 11 amino acids downstream. This alteration is then predicted to lead to a truncate d or absent protein. Heterozygous loss of function of the BRCA2 gene is an estab lished disease mechanism for HBOC. In summary, this variant meets our criteria t o be classified as pathogenic for HBOC in an autosomal dominant manner based upo n segregation studies, absence from controls, and predicted impact to protein.
Color Diagnostics, LLC DBA Color Health	RCV000131453	SCV000683453	pathogenic	Hereditary cancer-predisposing syndrome	2023-11-22	criteria provided, single submitter	clinical testing	This variant inserts 1 nucleotide in exon 10 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is also known as 2034insA, 2040insA, 2041insA, 2041dupA, 2041_2042insA, c.1813insA and c.1806dupA in the literature. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in a breast cancer case-control meta-analysis in 20 cases and 1 unaffected control, which is estimated to have an odds ratio for pathogenicity of OR=17.689 (95%CI 2.374 to 131.809; p-value<0.001) (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_001802) and has also been reported in individuals affected with breast, ovarian, pancreatic, prostate and neuroendocrine cancers (PMID: 9150150, 9667259, 18042939, 20104584, 21324516, 21952622, 22729890, 25072261, 28724667, 29433453) and suspected hereditary breast and ovarian cancer families (PMID: 11802209, 21232165, 24156927). In one family, this variant was reported in 11 women affected with breast cancer across three generations (PMID: 9150150). This variant also has been detected in two compound heterozygous individuals with a second pathogenic BRCA2 mutation who exhibited clinical features consistent with Fanconi anemia (PMID: 15070707, 21548014). Haplotype analysis suggests that this variant may be a founder mutation and is common in people of German ancestry (PMID: 9585613, 23199084). This variant has been identified in 3/232106 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
GeneKor MSA	RCV000043897	SCV000693558	pathogenic	Hereditary breast ovarian cancer syndrome	2020-01-01	criteria provided, single submitter	clinical testing	This sequence change inserts one nucleotide in exon 10 of the BRCA2 mRNA (c.1813dupA), causing a frameshift after codon 605. This creates a premature translational stop signal 11 amino acid residues later (p.Ile605Asnfs*11) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This particular variant has been reported in individuals affected with breast, ovarian, and prostate cancer (PMID: 9150150, 21952622, 22535016). The mutation database ClinVar contains entries for this variant (Variation ID: 37762).
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000031343	SCV000746277	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2017-12-03	criteria provided, single submitter	clinical testing
Mendelics	RCV000043897	SCV000838762	pathogenic	Hereditary breast ovarian cancer syndrome	2018-07-02	criteria provided, single submitter	clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	RCV000031343	SCV000839914	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2017-05-25	criteria provided, single submitter	clinical testing	The c.1813dup (p.Ile605Asnfs*11) variant in the BRCA2 gene has been detected in multiple patients with breast and/or ovarian cancer [referred as 2034insA and 2041insA in PMID 9150150, 21324516, 22535016] and prostate cancer [PMID 21952622].This variant has been reported in four individuals from the ExAC database (http://exac.broadinstitute.org/variant/22-29091226-TA-T). This one bp duplication in exon 10 results in a frameshift and the creation of a premature stop codon. This variant is expected to result in a loss of function of the protein. It is thus classified as pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000043897	SCV000918819	pathogenic	Hereditary breast ovarian cancer syndrome	2017-10-20	criteria provided, single submitter	clinical testing	Variant summary: The BRCA2 c.1813dupA (p.Ile605AsnfsX11) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1842dupT/ p.Asn615X, c.1889delC/ p.Thr630fsX14, etc). One in silico tool predicts a damaging outcome for this variant. This variant was found in 8/227550 control chromosomes at a frequency of 0.0000352, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in numerous affected individuals/families and has been classified this variant as pathogenic by multiple clinical diagnostic laboratories/reputable databases. Functional study showed variant with diminished DNA double strand break repair capacity (Becker_2012). Taken together, this variant is classified as pathogenic.
Academic Department of Medical Genetics, University of Cambridge	RCV000131453	SCV000992210	likely pathogenic	Hereditary cancer-predisposing syndrome	2018-01-26	criteria provided, single submitter	research	Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000160269	SCV001247641	pathogenic	not provided	2024-03-01	criteria provided, single submitter	clinical testing	BRCA2: PVS1, PS4, PM2
Institute of Human Genetics, University of Leipzig Medical Center	RCV000031343	SCV001428710	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2023-10-27	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PM5_STR
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000160269	SCV001447436	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital	RCV000160269	SCV001450011	pathogenic	not provided	2017-11-23	criteria provided, single submitter	clinical testing
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	RCV001310172	SCV001499767	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2020-04-02	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000160269	SCV002019152	pathogenic	not provided	2023-07-26	criteria provided, single submitter	clinical testing
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)	RCV000031343	SCV002104297	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2		criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000131453	SCV002533267	pathogenic	Hereditary cancer-predisposing syndrome	2021-12-21	criteria provided, single submitter	curation
Genetics and Molecular Pathology, SA Pathology	RCV001762061	SCV002556737	pathogenic	Familial cancer of breast	2020-05-25	criteria provided, single submitter	clinical testing
MGZ Medical Genetics Center	RCV000031343	SCV002579911	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2022-05-02	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000160269	SCV002761148	pathogenic	not provided	2023-08-15	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001310172	SCV003804730	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2024-04-22	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PS4,PM5_STR
Institute of Human Genetics, University of Leipzig Medical Center	RCV001762061	SCV004032245	pathogenic	Familial cancer of breast	2024-09-18	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PS4, PM5_PTC_S
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV000160269	SCV004035905	pathogenic	not provided	2023-09-20	criteria provided, single submitter	clinical testing	This variant has been identified by standard clinical testing. Breast-ovarian cancer, familial, susceptibility to, 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000031343	SCV004099179	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2023-09-27	criteria provided, single submitter	clinical testing	PVS1, PM2, PS4
Baylor Genetics	RCV001762061	SCV004211858	pathogenic	Familial cancer of breast	2024-03-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000160269	SCV004225753	pathogenic	not provided	2022-07-19	criteria provided, single submitter	clinical testing	PP5, PM2, PS4_moderate, PVS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000160269	SCV004562779	pathogenic	not provided	2023-03-23	criteria provided, single submitter	clinical testing	The BRCA2 c.1813dup; p.Ile605AsnfsTer11 variant (rs80359306), also known as 2041insA and 2034insA, is reported in the literature in several individuals with HBOC-related cancers (Becker 2012, Foretova 2004, Ibrahim 2018, Zhang 2011), and was demonstrated to segregate with disease in a large German family (Schubert 1997). This variant has also been reported in patients with prostate and other cancers (Ibrahim 2018, Kote-Jarai 2011). This variant is reported in ClinVar and is classified as pathogenic by an expert panel (Variation ID: 37762). This variant is only found on three alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Functional data indicate that cell lines derived from patients harboring the c.1813dup variant are more susceptible than wild-type to radiation induced chromosomal abnormalities (Becker 2012). Based on available information, the p.Ile605AsnfsTer11 variant is considered to be pathogenic. REFERENCES Becker et al. A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity. Breast Cancer Res Treat. 2012; 135(1): 167-175. PMID: 22729890. Foretova et al. BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. Hum Mutat. 2004 Apr; 23(4): 397-398. PMID: 15024741. Ibrahim M et al. Male BRCA mutation carriers: clinical characteristics and cancer spectrum. BMC Cancer. 2018 Feb 13;18(1):179. PMID: 29433453. Kote-Jarai et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Br J Cancer. 2011; 105(8): 1230-1234. PMID: 21952622. Schubert et al. BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. Am J Hum Genet. 1997; 60(5): 1031-1040. PMID: 9150150. Zhang et al. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol. 2011; 121(2): 353-357. PMID: 21324516.
All of Us Research Program, National Institutes of Health	RCV000031343	SCV004846973	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2024-02-05	criteria provided, single submitter	clinical testing	This variant inserts 1 nucleotide in exon 10 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is also known as 2034insA, 2040insA, 2041insA, 2041dupA, 2041_2042insA, c.1813insA and c.1806dupA in the literature. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in a breast cancer case-control meta-analysis in 20 cases and 1 unaffected control, which is estimated to have an odds ratio for pathogenicity of OR=17.689 (95%CI 2.374 to 131.809; p-value<0.001) (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_001802) and also has been reported in individuals affected with breast, ovarian, pancreatic, prostate and neuroendocrine cancers (PMID: 9150150, 9667259, 18042939, 20104584, 21324516, 21952622, 22729890, 25072261, 28724667, 29433453) and suspected hereditary breast and ovarian cancer families (PMID: 11802209, 21232165, 24156927). In one family, this variant was reported in 11 women affected with breast cancer across three generations (PMID: 9150150). This variant also has been detected in two compound heterozygous individuals with a second pathogenic BRCA2 mutation who exhibited clinical features consistent with Fanconi anemia (PMID: 15070707, 21548014). Haplotype analysis suggests that this variant may be a founder mutation and is common in people of German ancestry (PMID: 9585613, 23199084). This variant has been identified in 3/232106 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Department of Human Genetics, Hannover Medical School	RCV000031343	SCV005093814	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2024-08-05	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV000160269	SCV005199775	pathogenic	not provided	2022-05-27	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000031343	SCV000053947	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2013-10-11	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000031343	SCV000145951	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2002-05-29	no assertion criteria provided	clinical testing
Institute of Human Genetics, Medical University Innsbruck	RCV000031343	SCV000212013	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-02-11	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000043897	SCV000587614	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000160269	SCV000591772	pathogenic	not provided		no assertion criteria provided	clinical testing	The BRCA2 p.Ile605AsnfsX11 variant was identified in 8 of 22770 proband chromosomes (frequency: 0.00035) from individuals or families with Breast, Ovarian, or Prostate cancer (Becker, 2012; Heidemann, 2012; Janavicius, 2010; Kote-Jarai, 2011; Schubert, 1997; Zhang, 2011). The variant was shown to segregate in at least nine affected individuals with breast cancer (Schubert, 1997; Heidemann, 2012). The variant was also identified in dbSNP (ID: rs80359306) “With pathogenic allele”, HGMD, the BIC database (75X with class 5 clinical importance), and UMD (18X as a causal variant). The c.1813dupA duplication variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 605 and leads to a premature stop codon 11 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA2 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
PreventionGenetics, part of Exact Sciences	RCV001824580	SCV000805657	pathogenic	BRCA2-related disorder	2024-03-23	no assertion criteria provided	clinical testing	The BRCA2 c.1813dupA variant is predicted to result in a frameshift and premature protein termination (p.Ile605Asnfs*11). This variant (alternatively described as 1813insA and 2041dupA) has been documented multiple times in individuals with personal and/or family history of breast/ovarian cancers (Son et al. 2012. PubMed ID: 22382806; Meisel et al. 2017. PubMed ID: 28324225), and prostate cancer (Kote-Jarai et al. 2011. PubMed ID: 21952622). A functional in vitro study using blood lymphocytes on this variant has demonstrated significantly higher radiation-induced chromosomal aberrations (Becker et al. 2012. PubMed ID: 22729890). This variant is reported in 0.0066% of alleles in individuals of African descent in gnomAD and is classified as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/37762/). Frameshift variants in BRCA2 are expected to be pathogenic. This variant is interpreted as pathogenic.
CZECANCA consortium	RCV000768624	SCV001451796	pathogenic	Breast and/or ovarian cancer	2019-06-11	no assertion criteria provided	clinical testing
CZECANCA consortium	RCV001391213	SCV001593129	pathogenic	Carcinoma of pancreas	2021-03-04	no assertion criteria provided	case-control
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000160269	SCV001797345	pathogenic	not provided		no assertion criteria provided	clinical testing
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	RCV001642272	SCV001852758	likely pathogenic	Breast carcinoma	2021-09-12	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000160269	SCV001905821	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000160269	SCV001968680	pathogenic	not provided		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001824580	SCV002075083	not provided	BRCA2-related disorder		no assertion provided	phenotyping only	Variant interpreted as Pathogenic and reported on 09-10-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
BRCAlab, Lund University	RCV000031343	SCV002588853	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2022-08-26	no assertion criteria provided	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV003330405	SCV004037528	not provided	Fanconi anemia complementation group D1; Hereditary breast ovarian cancer syndrome		no assertion provided	phenotyping only	Variant classified as Pathogenic and reported on 05-11-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA)	RCV000031343	SCV005061313	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2021-05-24	no assertion criteria provided	case-control