ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3296C>T (p.Ser1099Leu)

dbSNP: rs397507663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772200 SCV000905317 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-28 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000772200 SCV003851837 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Ambry Genetics RCV000772200 SCV005025871 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-16 criteria provided, single submitter clinical testing The p.S1099L variant (also known as c.3296C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 3296. The serine at codon 1099 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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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