ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3431T>G (p.Val1144Gly) (rs80358587)

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Total submissions: 7
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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 2018-11-08 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 RCV000212228 SCV000210590 likely benign not specified 2016-11-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000083098 SCV000489470 uncertain significance Breast-ovarian cancer, familial 2 2016-10-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000129914 SCV000903237 likely benign Hereditary cancer-predisposing syndrome 2015-12-09 criteria provided, single submitter clinical testing
Invitae RCV001434940 SCV001637758 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-04 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083098 SCV000115172 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083098 SCV000146232 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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