ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7208C>T (p.Thr2403Ile)

dbSNP: rs878853600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230599 SCV000283310 uncertain significance Hereditary breast ovarian cancer syndrome 2022-09-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. 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 BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 236898). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2403 of the BRCA2 protein (p.Thr2403Ile).
Ambry Genetics RCV000574669 SCV000661354 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-01 criteria provided, single submitter clinical testing The p.T2403I variant (also known as c.7208C>T), located in coding exon 13 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7208. The threonine at codon 2403 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000574669 SCV000905269 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing

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