ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1187C>T (p.Ser396Phe)

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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 RCV002340447 SCV002637419 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-29 criteria provided, single submitter clinical testing The p.S396F variant (also known as c.1187C>T), located in coding exon 9 of the BRCA2 gene, results from a C to T substitution at nucleotide position 1187. The serine at codon 396 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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 RCV002340447 SCV003849898 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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