ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.215A>C (p.Asn72Thr)

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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 RCV002432561 SCV002727253 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-12 criteria provided, single submitter clinical testing The p.N72T variant (also known as c.215A>C), located in coding exon 2 of the BRCA2 gene, results from an A to C substitution at nucleotide position 215. The asparagine at codon 72 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003464550 SCV004213608 uncertain significance Familial cancer of breast 2023-09-06 criteria provided, single submitter clinical testing

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