ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9199C>T (p.Pro3067Ser)

gnomAD frequency: 0.00001  dbSNP: rs769635024
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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 RCV002111247 SCV002382644 likely benign Hereditary breast ovarian cancer syndrome 2024-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372904 SCV002687484 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-26 criteria provided, single submitter clinical testing The p.P3067S variant (also known as c.9199C>T), located in coding exon 23 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9199. The proline at codon 3067 is replaced by serine, 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.

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