ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) (rs80358705)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130783 SCV000185676 likely benign Hereditary cancer-predisposing syndrome 2017-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031508 SCV000146488 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000130783 SCV000910745 benign Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing
Department of Medical Genetics,University Hospital of North Norway RCV000031508 SCV000301448 uncertain significance Breast-ovarian cancer, familial 2 2016-05-01 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000074530 SCV000591929 uncertain significance not specified 2014-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000074530 SCV000108615 likely benign not specified 2018-02-21 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 RCV000587265 SCV000694805 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4828G>A (p.Val1610Met) variant involves the alteration of a non-conserved nucleotide and 4/5 in silico tools predict a benign outcome. However, these predictions have yet to be functionally assessed. This variant was found in 15/119794 control chromosomes at a frequency of 0.0001252, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503).The variant of interest has been reported in multiple affected individuals via publications. In addition, multiple reputable databases/clinical laboratories cite the variant with a classification of "likely benign/benign." Furthermore, multiple databases cite the variant to co-occur with another potentially pathogenic BRCA1 variants, c.3481_3491delGAAGATACTAG (p.Glu1161fsX3 - classified as pathogenic by LCA) and c.4327C>T (p.Arg1443X - classified as pathogenic by LCA). Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as a "Variant of Uncertain Significance - Possibly Benign," until additional information becomes available.
Invitae RCV000044498 SCV000072511 benign Hereditary breast and ovarian cancer syndrome 2017-12-29 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031508 SCV000054113 benign Breast-ovarian cancer, familial 2 2009-08-31 no assertion criteria provided clinical testing

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