ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) (rs11571642)

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Total submissions: 22
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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) RCV000112968 SCV000245005 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 0.01829 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000043883 SCV000071896 benign Hereditary breast and ovarian cancer syndrome 2020-12-06 criteria provided, single submitter clinical testing
Counsyl RCV000112968 SCV000154065 benign Breast-ovarian cancer, familial 2 2014-01-09 criteria provided, single submitter literature only
Ambry Genetics RCV000162709 SCV000213170 benign Hereditary cancer-predisposing syndrome 2015-11-06 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173628 SCV000224755 benign not specified 2014-08-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397994 SCV000383637 likely benign Fanconi anemia, complementation group D1 2018-01-31 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 RCV000112968 SCV000383638 likely benign Breast-ovarian cancer, familial 2 2018-01-31 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 RCV000043883 SCV000494303 benign Hereditary breast and ovarian cancer syndrome 2014-04-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000462260 SCV000541046 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283138 SCV000602872 benign none provided 2020-07-13 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000162709 SCV000679709 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162709 SCV000683447 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000112968 SCV000743264 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 RCV000112968 SCV000744415 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173628 SCV000805656 benign not specified 2017-02-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770713 SCV000902190 uncertain significance Breast and/or ovarian cancer 2016-07-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000173628 SCV001470402 benign not specified 2020-06-17 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112968 SCV000145934 uncertain significance Breast-ovarian cancer, familial 2 1997-11-13 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353850 SCV000591766 benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Asp596Asp variant has been identified in 5 individuals from our laboratory, and 13 times in the UMD-BRCA2 database. It is reported in the literature in 28 of 8092 (frequency of 0.003) probands with breast and ovarian cancers; although no control chromosomes were tested to establish the variants frequency in the general population (Borg 2010, Thomassen 2011, Caux-Moncoutier 2011, Fackenthal 2011). The p.Asp596Asp variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, and is listed in dbSNP database as coming from a "clinical source" (ID#: rs11571642) with an average heterozygosity of 0.013+/-0.079 increasing the likelihood that this is a low frequency benign variant. This variant listed in one proband in our laboratory and one from the UMD database, both of which carried a second pathogenic mutation and breast or ovarian cancer phenotype, increasing the likelihood this variant does not have clinical significance. In addition, Myriad genetics has reported this variant as a polymorphism increasing the likelihood this variant is benign (personal communication). In summary, based on the above information, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000656589 SCV000778647 benign not provided 2017-11-20 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000173628 SCV001905969 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000173628 SCV001953340 benign not specified no assertion criteria provided clinical testing

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