ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) (rs11571640)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414578 SCV000492490 uncertain significance Neoplasm of the breast criteria provided, single submitter research
Ambry Genetics RCV000131239 SCV000186196 benign Hereditary cancer-predisposing syndrome 2015-03-01 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034472 SCV000043193 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000031841 SCV000145797 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131239 SCV000684083 likely benign Hereditary cancer-predisposing syndrome 2016-11-03 criteria provided, single submitter clinical testing
Counsyl RCV000031841 SCV000220806 likely benign Breast-ovarian cancer, familial 2 2014-10-16 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000074565 SCV000591722 uncertain significance not specified 2013-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000074565 SCV000108650 likely benign not specified 2017-06-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000034472 SCV000695260 likely benign not provided 2017-02-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.964A>C (p.Lys322Gln) variant involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. This variant was found in 30/123662 control chromosomes, predominantly in the East Asian cohort, 29/10878 (0.0027), which does exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Therefore, suggesting that the variant is a polymorphism found most frequently in population(s) of East Asian origin. In addition, the variant has been reported in 2 unaffected individuals (Carnery_2010), showing evidence for lack of co-segregation. Also multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000045881 SCV000073894 benign Hereditary breast and ovarian cancer syndrome 2017-11-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000074565 SCV000538478 likely benign not specified 2016-10-27 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 11 patients with breast cancer (7 of whom were Asian), 1 patient with hepatocellular carcinoma, and 1 patient with no history of cancer. It is present in ExAC with a Max MAF of 0.35%. At this frequency a pathogenic role is unlikely. It is classified as LB/B by 5 submitters in ClinVar with 1 star (Invitae, GeneDx, Ambry, Counsyl, SCRP) and as VUS by BIC and Biesecker lab.
Mendelics RCV000045881 SCV000838749 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031841 SCV000054449 benign Breast-ovarian cancer, familial 2 2011-03-10 no assertion criteria provided clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000031841 SCV000267232 uncertain significance Breast-ovarian cancer, familial 2 2016-03-18 criteria provided, single submitter reference population

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