ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.381T>G (p.Ser127Arg)

dbSNP: rs945168715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770751 SCV000902235 uncertain significance Breast and/or ovarian cancer 2016-10-06 criteria provided, single submitter clinical testing
Invitae RCV001040943 SCV001204535 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-16 criteria provided, single submitter clinical testing 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. This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 127 of the BRCA1 protein (p.Ser127Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 626904). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function.
Baylor Genetics RCV003461023 SCV004215095 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2023-06-14 criteria provided, single submitter clinical testing

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