ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9814G>C (p.Asp3272His)

dbSNP: rs879255474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002374408 SCV002689604 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-03 criteria provided, single submitter clinical testing The p.D3272H variant (also known as c.9814G>C), located in coding exon 26 of the BRCA2 gene, results from a G to C substitution at nucleotide position 9814. The aspartic acid at codon 3272 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly 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.
Sharing Clinical Reports Project (SCRP) RCV000238955 SCV000297464 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2008-11-25 no assertion criteria provided clinical testing

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