ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.10T>C (p.Ser4Pro)

dbSNP: rs876658707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216237 SCV000274320 likely benign Hereditary cancer-predisposing syndrome 2019-05-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000706715 SCV000835782 uncertain significance Hereditary breast ovarian cancer syndrome 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 4 of the BRCA1 protein (p.Ser4Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 27616075). ClinVar contains an entry for this variant (Variation ID: 230684). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect BRCA1 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.
CeGaT Center for Human Genetics Tuebingen RCV003221867 SCV003917931 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing BRCA1: PM2, BP1, BP4, BS3:Supporting
Brotman Baty Institute, University of Washington RCV001072306 SCV001237664 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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