ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1609A>G (p.Asn537Asp) (rs398122639)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131971 SCV000187029 likely benign Hereditary cancer-predisposing syndrome 2016-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbSNP, ESP, 1000 Genomes),in silico models in agreement (benign),Other data supporting benign classification
Invitae RCV000232941 SCV000289748 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000605647 SCV000729886 likely benign not specified 2017-11-09 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.
Counsyl RCV000077075 SCV000785431 uncertain significance Breast-ovarian cancer, familial 1 2017-08-04 criteria provided, single submitter clinical testing
Color RCV000131971 SCV000909373 likely benign Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000605647 SCV000918681 uncertain significance not specified 2019-08-27 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.1609A>G (p.Asn537Asp) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250852 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1609A>G has been reported in the literature in individuals affected with Breast Cancer. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and reported the variant with conflicting assessments (3 calling it Likely benign, while 2 classifying it as a VUS). Based on the evidence outlined above, the variant was classified as uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000232941 SCV001133492 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077075 SCV000108872 benign Breast-ovarian cancer, familial 1 2008-11-11 no assertion criteria provided clinical testing

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