ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6304G>T (p.Val2102Leu) (rs80358869)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485835 SCV000569193 uncertain significance not provided 2016-01-13 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6304G>T at the cDNA level, p.Val2102Leu (V2102L) at the protein level, and results in the change of a Valine to a Leucine (GTA>TTA). Using alternate nomenclature, this variant would be defined as BRCA2 6532G>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Val2102Leu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Valine and Leucine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Val2102Leu occurs at a position that is not conserved and is not located in a known functional domain (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Val2102Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000771297 SCV000903523 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113563 SCV000146814 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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