ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4660A>G (p.Ser1554Gly)

dbSNP: rs2072510232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284572 SCV001470426 uncertain significance not provided 2020-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871661 SCV002220454 uncertain significance Hereditary breast ovarian cancer syndrome 2021-08-30 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 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 not expected to disrupt BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 993208). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 1554 of the BRCA2 protein (p.Ser1554Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine.
University of Washington Department of Laboratory Medicine, University of Washington RCV003158652 SCV003851995 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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