ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10175A>C (p.Lys3392Thr)

dbSNP: rs80358400
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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 RCV001009705 SCV001169803 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-29 criteria provided, single submitter clinical testing The p.K3392T variant (also known as c.10175A>C), located in coding exon 26 of the BRCA2 gene, results from an A to C substitution at nucleotide position 10175. The lysine at codon 3392 is replaced by threonine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001315068 SCV001505624 uncertain significance Hereditary breast ovarian cancer syndrome 2024-03-07 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 3392 of the BRCA2 protein (p.Lys3392Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 19491284). ClinVar contains an entry for this variant (Variation ID: 51052). 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 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112848 SCV000145763 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 1998-07-10 no assertion criteria provided clinical testing

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