ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.179A>G (p.Asn60Ser) (rs80358463)

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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 RCV000130469 SCV000185335 likely benign Hereditary cancer-predisposing syndrome 2017-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031339 SCV000146309 uncertain significance Breast-ovarian cancer, familial 2 1999-04-12 no assertion criteria provided clinical testing
Color RCV000130469 SCV000902888 benign Hereditary cancer-predisposing syndrome 2016-04-25 criteria provided, single submitter clinical testing
Counsyl RCV000031339 SCV000487989 uncertain significance Breast-ovarian cancer, familial 2 2015-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000168530 SCV000210660 likely benign not specified 2017-12-13 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 RCV000589897 SCV000694566 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.179A>G (p.Asn60Ser) variant involves the alteration of a conserved nucleotide and 3/5 in silico tools predict a benign outcome. However, these predictions have yet to be functionally assessed. This variant was found in 2/121204 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Multiple publications have cited the variant in affected individuals, although with limited information (ie, lack of co-occurrence and cosegregation data). Although, three co-occurrences with a pathogenic BRCA1 variant has been reported by BIC, UMD, and our laboratory (BRCA1 p.Val923_Asn924?fs, p.His1326LeufsX13, and p.Cys61Gly, respectively). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000203631 SCV000071903 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031339 SCV000053944 benign Breast-ovarian cancer, familial 2 2009-01-22 no assertion criteria provided clinical testing

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