ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9144T>G (p.Ile3048Met)

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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 RCV003293407 SCV004005392 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter clinical testing The p.I3048M variant (also known as c.9144T>G), located in coding exon 23 of the BRCA2 gene, results from a T to G substitution at nucleotide position 9144. The isoleucine at codon 3048 is replaced by methionine, an amino acid with highly 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.

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