ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu)

dbSNP: rs397509035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV003157811 SCV003849119 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 RCV003157811 SCV004004354 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-19 criteria provided, single submitter clinical testing The p.S1041L variant (also known as c.3122C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3122. The serine at codon 1041 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not 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.
Institute of Human Genetics, University of Wuerzburg RCV000678467 SCV000804530 uncertain significance Breast carcinoma no assertion criteria provided clinical testing

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