ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7865A>C (p.Asn2622Thr)

dbSNP: rs142899125
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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 RCV001026886 SCV001189356 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-27 criteria provided, single submitter clinical testing The p.N2622T variant (also known as c.7865A>C), located in coding exon 16 of the BRCA2 gene, results from an A to C substitution at nucleotide position 7865. The asparagine at codon 2622 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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