ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6446T>A (p.Ile2149Asn)

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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 RCV004952422 SCV005548754 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-20 criteria provided, single submitter clinical testing The p.I2149N variant (also known as c.6446T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 6446. The isoleucine at codon 2149 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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