ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3508A>G (p.Ile1170Val)

gnomAD frequency: 0.00001  dbSNP: rs273899708
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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 RCV000568795 SCV000661012 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-02 criteria provided, single submitter clinical testing The p.I1170V variant (also known as c.3508A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 3508. The isoleucine at codon 1170 is replaced by valine, an amino acid with highly similar 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 RCV002527973 SCV002943564 uncertain significance Hereditary breast ovarian cancer syndrome 2024-09-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1170 of the BRCA1 protein (p.Ile1170Val). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 479203). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000568795 SCV003851880 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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