ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3623T>C (p.Leu1208Ser)

dbSNP: rs1555283314
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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 RCV000563419 SCV000664797 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-30 criteria provided, single submitter clinical testing The p.L1208S variant (also known as c.3623T>C), located in coding exon 10 of the BRCA2 gene, results from a T to C substitution at nucleotide position 3623. The leucine at codon 1208 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000563419 SCV003846742 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).

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