ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1810A>G (p.Lys604Glu) (rs80358467)

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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 RCV000129177 SCV000183912 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031341 SCV000145947 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000129177 SCV000902945 benign Hereditary cancer-predisposing syndrome 2016-11-16 criteria provided, single submitter clinical testing
Counsyl RCV000031341 SCV000488958 uncertain significance Breast-ovarian cancer, familial 2 2016-07-26 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000425351 SCV000591771 uncertain significance not specified 2013-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000425351 SCV000512342 likely benign not specified 2017-12-21 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 RCV000590202 SCV000694569 likely benign not provided 2016-11-21 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1810A>G (p.Lys604Glu) variant involves the alteration of a non-conserved nucleotide, which 3/5 in silico tools predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 4/118132 (1/29498), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest has been reported in one publication, however, limited information is provided. Although, BIC reports the variant to co-occur with a pathogenic BRCA1 variant, c.5266dupC in 2 individuals, along with one internal LCA sample reported a co-occurrence with the pathogenic BRCA1 variant, c.68_69delAG (classified as pathogenic by LCA). In addition, multiple clinical diagnostic laboratories/databases cite the variant as "likely benign/benign." Therefore, the variant of interest has been classified as "Likely Benign."
Invitae RCV000228791 SCV000283176 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-24 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031341 SCV000053946 benign Breast-ovarian cancer, familial 2 2009-11-18 no assertion criteria provided clinical testing

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