ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7820C>T (p.Thr2607Ile)

dbSNP: rs1555286821
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575468 SCV000668595 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter clinical testing The p.T2607I variant (also known as c.7820C>T), located in coding exon 16 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7820. The threonine at codon 2607 is replaced by isoleucine, an amino acid with similar properties. This alteration has been identified in a Spanish cohort of sporadic breast cancer patients (Esteban Cardeñosa E et al. Breast Cancer Res. Treat. 2008 Nov;112:69-73; de Juan Jiménez I et al. Fam. Cancer. 2012 Mar;11:49-56). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000818024 SCV000958616 uncertain significance Hereditary breast ovarian cancer syndrome 2022-06-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2607 of the BRCA2 protein (p.Thr2607Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 18060494). This variant is also known as 8048C>T. ClinVar contains an entry for this variant (Variation ID: 482993). 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.
Baylor Genetics RCV003459345 SCV004216138 uncertain significance Familial cancer of breast 2023-05-16 criteria provided, single submitter clinical testing
King Laboratory, University of Washington RCV001171394 SCV001251297 benign not specified 2019-09-01 no assertion criteria provided research

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