ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9367A>T (p.Ser3123Cys)

dbSNP: rs80359208
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015138 SCV002283129 uncertain significance Hereditary breast ovarian cancer syndrome 2021-05-09 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 3123 of the BRCA2 protein (p.Ser3123Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. 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 expected to disrupt BRCA2 protein function. 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.

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