ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8663G>T (p.Arg2888Leu) (rs80359124)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113983 SCV000147433 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
GeneDx RCV000520379 SCV000618003 uncertain significance not provided 2017-05-18 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8663G>T at the cDNA level, p.Arg2888Leu (R2888L) at the protein level, and results in the change of an Arginine to a Leucine (CGT>CTT). Using alternate nomenclature, this variant would be defined as BRCA2 8891G>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Arg2888Leu was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Arginine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Arg2888Leu occurs at a position where amino acids with properties similar to Arginine are tolerated across species and is located in the DNA binding domain (Yang 2002). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Arg2888Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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