ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5315T>G (p.Phe1772Cys)

dbSNP: rs1555575700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529363 SCV000636026 uncertain significance Hereditary breast ovarian cancer syndrome 2017-04-10 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. This sequence change replaces phenylalanine with cysteine at codon 1772 of the BRCA1 protein (p.Phe1772Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine.
Myriad Genetics, Inc. RCV001072688 SCV004018058 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-02-16 criteria provided, single submitter clinical testing This variant is considered likely benign. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.
Brotman Baty Institute, University of Washington RCV001072688 SCV001238116 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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