ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly)

gnomAD frequency: 0.00001  dbSNP: rs80358587
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129914 SCV000184732 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-22 criteria provided, single submitter clinical testing The p.V1144G variant (also known as c.3431T>G), located in coding exon 10 of the BRCA2 gene, results from a T to G substitution at nucleotide position 3431. The valine at codon 1144 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly 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.
GeneDx RCV001703943 SCV000210590 likely benign not provided 2019-10-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a benign effect; This variant is associated with the following publications: (PMID: 31131967)
Counsyl RCV000083098 SCV000489470 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129914 SCV000903237 likely benign Hereditary cancer-predisposing syndrome 2015-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001434940 SCV001637758 likely benign Hereditary breast ovarian cancer syndrome 2025-01-19 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000129914 SCV003851953 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).
All of Us Research Program, National Institutes of Health RCV000083098 SCV004845156 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-07-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083098 SCV000115172 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083098 SCV000146232 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing

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