ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9215T>A (p.Val3072Glu) (rs80359185)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000114067 SCV000147569 uncertain significance Breast-ovarian cancer, familial 2 2001-02-16 no assertion criteria provided clinical testing
GeneDx RCV000481070 SCV000569266 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9215T>A at the cDNA level, p.Val3072Glu (V3072E) at the protein level, and results in the change of a Valine to a Glutamic Acid (GTG>GAG). Using alternate nomenclature, this variant would be defined as BRCA2 9443T>A. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. BRCA2 Val3072Glu was not observed in large population cohorts (Lek 2016). This variant is located in the DNA Binding Domain (Yang 2002). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Val3072Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000781100 SCV000918930 uncertain significance not specified 2018-01-15 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9215T>A (p.Val3072Glu) variant involves the alteration of a conserved nucleotide located in the BRCA2, OB3 domain of the protein (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 246070 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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