ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9385C>A (p.Pro3129Thr)

dbSNP: rs80359213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019247 SCV001180579 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-17 criteria provided, single submitter clinical testing The p.P3129T variant (also known as c.9385C>A), located in coding exon 24 of the BRCA2 gene, results from a C to A substitution at nucleotide position 9385. The proline at codon 3129 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is not 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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