ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3112T>C (p.Tyr1038His)

dbSNP: rs1060502423
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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 RCV000460299 SCV000549596 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 1038 of the BRCA2 protein (p.Tyr1038His). 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. ClinVar contains an entry for this variant (Variation ID: 409481). 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157534 SCV003851694 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).
Ambry Genetics RCV003157534 SCV005548651 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-09 criteria provided, single submitter clinical testing The p.Y1038H variant (also known as c.3112T>C), located in coding exon 10 of the BRCA2 gene, results from a T to C substitution at nucleotide position 3112. The tyrosine at codon 1038 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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