ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6513_6514delinsCC (p.Ser2172Pro)

dbSNP: rs1064794089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001931309 SCV002197541 uncertain significance Hereditary breast ovarian cancer syndrome 2021-09-02 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003156870 SCV003847543 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).
Ambry Genetics RCV003156870 SCV005548758 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-10 criteria provided, single submitter clinical testing The c.6513_6514delGTinsCC variant (also known as p.S2172P), located in coding exon 10 of the BRCA2 gene, results from an in-frame deletion of GT and insertion of CC at nucleotide positions 6513 to 6514. This results in the substitution of the serine residue for a proline residue at codon 2172, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.

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