ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7199G>A (p.Gly2400Asp)

gnomAD frequency: 0.00003  dbSNP: rs964130792
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774659 SCV000908538 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774659 SCV002670159 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-28 criteria provided, single submitter clinical testing The p.G2400D variant (also known as c.7199G>A), located in coding exon 13 of the BRCA2 gene, results from a G to A substitution at nucleotide position 7199. The glycine at codon 2400 is replaced by aspartic acid, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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