ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3160G>C (p.Asp1054His)

dbSNP: rs1555283071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536561 SCV000635271 uncertain significance Hereditary breast ovarian cancer syndrome 2017-01-26 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. This sequence change replaces aspartic acid with histidine at codon 1054 of the BRCA2 protein (p.Asp1054His). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and histidine.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157653 SCV003851727 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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