ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3289A>T (p.Ser1097Cys)

dbSNP: rs587782864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132485 SCV000187579 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-01 criteria provided, single submitter clinical testing The p.S1097C variant (also known as c.3289A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3289. The serine at codon 1097 is replaced by cysteine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001065014 SCV001229952 uncertain significance Hereditary breast ovarian cancer syndrome 2023-05-04 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 142978). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1097 of the BRCA1 protein (p.Ser1097Cys).
University of Washington Department of Laboratory Medicine, University of Washington RCV000132485 SCV003847102 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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