ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5264C>T (p.Ser1755Phe)

dbSNP: rs1555576858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637788 SCV000759267 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-06 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. 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. ClinVar contains an entry for this variant (Variation ID: 531431). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1755 of the BRCA1 protein (p.Ser1755Phe).
Brotman Baty Institute, University of Washington RCV001076697 SCV001242495 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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