ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7111T>C (p.Ser2371Pro)

gnomAD frequency: 0.00001  dbSNP: rs374388885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026054 SCV001188362 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-26 criteria provided, single submitter clinical testing The p.S2371P variant (also known as c.7111T>C), located in coding exon 13 of the BRCA2 gene, results from a T to C substitution at nucleotide position 7111. The serine at codon 2371 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001039135 SCV001202648 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-29 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: 826847). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is present in population databases (rs374388885, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2371 of the BRCA2 protein (p.Ser2371Pro).
Sema4, Sema4 RCV001026054 SCV002531840 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-30 criteria provided, single submitter curation
Baylor Genetics RCV004570061 SCV005059169 uncertain significance Familial cancer of breast 2023-11-30 criteria provided, single submitter clinical testing

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