ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) (rs36060526)

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Total submissions: 25
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113152 SCV000245026 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02642 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000044161 SCV000072174 benign Hereditary breast and ovarian cancer syndrome 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000113152 SCV000154082 benign Breast-ovarian cancer, familial 2 2014-03-14 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152872 SCV000202283 benign not specified 2015-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162497 SCV000212884 benign Hereditary cancer-predisposing syndrome 2014-09-16 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000044161 SCV000257608 likely benign Hereditary breast and ovarian cancer syndrome 2015-04-14 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113152 SCV000267756 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768626 SCV000324837 benign Breast and/or ovarian cancer 2016-01-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372410 SCV000383671 likely benign Fanconi anemia, complementation group D1 2018-01-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000113152 SCV000383672 likely benign Breast-ovarian cancer, familial 2 2018-01-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000044161 SCV000494316 benign Hereditary breast and ovarian cancer syndrome 2014-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000474724 SCV000541036 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152872 SCV000586940 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282543 SCV000602874 benign none provided 2020-06-24 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000162497 SCV000679713 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162497 SCV000683541 benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000113152 SCV000743283 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000113152 SCV000744437 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152872 SCV000805690 benign not specified 2017-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000656595 SCV001911907 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28324225)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113152 SCV000146200 uncertain significance Breast-ovarian cancer, familial 2 2003-10-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353464 SCV000591852 benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Pro1088Pro variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It is listed in the dbSNP database as coming from a "clinical source" (ID#: rs36060526) with a global minor allele frequency (MAF) of 0.006, increasing the likelihood that this is a low frequency benign variant. The variant has been reported in the literature in 9/7860 proband chromosomes of individuals with breast and prostate cancer; however, no control chromosomes were tested to establish the frequency of the variant in the general population (Borg_2010, Caux-Moncoutier_2011, Edwards_2003, Fackenthal_2005). The variant was also identified in the UMD database (x16), BIC database (x6), Exome Server database and the BOCs database. In the UMD database, this variant was identified in one individual with a second pathogenic variant in the BRCA2 gene (c.2808_2811delACAA, p.Ala938ProfsX21), increasing the likelihood that the p.Pro1088Pro variant is a benign alteration. In summary, based on the above information, this variant is classified as Benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000656595 SCV000778662 likely benign not provided 2017-12-22 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000152872 SCV001905705 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000152872 SCV001954208 benign not specified no assertion criteria provided clinical testing

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