ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6865_6866delinsAG (p.Leu2289Arg)

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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 RCV003187234 SCV003853780 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-25 criteria provided, single submitter clinical testing The c.6865_6866delTTinsAG variant (also known as p.L2289R), located in coding exon 11 of the BRCA2 gene, results from an in-frame deletion of TT and insertion of AG at nucleotide positions 6865 to 6866. This results in the substitution of the leucine residue for an arginine residue at codon 2289, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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