ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9190G>C (p.Asp3064His)

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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 RCV003358281 SCV004052566 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-16 criteria provided, single submitter clinical testing The p.D3064H variant (also known as c.9190G>C), located in coding exon 23 of the BRCA2 gene, results from a G to C substitution at nucleotide position 9190. The aspartic acid at codon 3064 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. 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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