ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10059G>T (p.Leu3353Phe)

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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 RCV004950366 SCV005548653 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-11 criteria provided, single submitter clinical testing The p.L3353F variant (also known as c.10059G>T), located in coding exon 26 of the BRCA2 gene, results from a G to T substitution at nucleotide position 10059. The leucine at codon 3353 is replaced by phenylalanine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
BRCAlab, Lund University RCV003494458 SCV004243888 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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