ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.238A>G (p.Ser80Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001194455 SCV001364035 uncertain significance not specified 2019-10-10 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.238A>G (p.Ser80Gly) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251192 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.238A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrence with another pathogenic variant has been reported (BRCA1 c.191G>A, p.Cys64Tyr; internal sample), providing supporting evidence for a benign role. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV001211369 SCV001382906 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 80 of the BRCA1 protein (p.Ser80Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in individuals with BRCA1-related conditions. This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Brotman Baty Institute,University of Washington RCV001072707 SCV001238138 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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