ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3032C>T (p.Thr1011Ile)

dbSNP: rs80358548
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580124 SCV000683522 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001312598 SCV001503058 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 489753). 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 BRCA2 protein function. 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. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1011 of the BRCA2 protein (p.Thr1011Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions.
Ambry Genetics RCV000580124 SCV002753441 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-13 criteria provided, single submitter clinical testing The p.T1011I variant (also known as c.3032C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 3032. The threonine at codon 1011 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000580124 SCV003850328 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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