ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8363G>T (p.Trp2788Leu)

dbSNP: rs80359080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813533 SCV000953896 uncertain significance Hereditary breast ovarian cancer syndrome 2022-06-30 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 656996). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 2788 of the BRCA2 protein (p.Trp2788Leu).
Ambry Genetics RCV002440774 SCV002676660 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-03 criteria provided, single submitter clinical testing The p.W2788L variant (also known as c.8363G>T), located in coding exon 18 of the BRCA2 gene, results from a G to T substitution at nucleotide position 8363. The tryptophan at codon 2788 is replaced by leucine, an amino acid with similar properties. Experimental evidence indicates that this variant is non-functional based on assessment of homology-directed DNA repair (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Department of Human Genetics, Hannover Medical School RCV004569694 SCV005050120 uncertain significance Pancreatic cancer, susceptibility to, 2 2024-06-10 criteria provided, single submitter clinical testing

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