ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.263T>G (p.Leu88Arg) (rs80358525)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508228 SCV000600518 uncertain significance not specified 2017-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509986 SCV000608231 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-07 criteria provided, single submitter clinical testing Insufficient evidence
GeneDx RCV000586977 SCV000618091 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.263T>G at the cDNA level, p.Leu88Arg (L88R) at the protein level, and results in the change of a Leucine to an Arginine (CTG>CGG). Using alternate nomenclature, this variant would be defined as BRCA2 491T>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Leu88Arg was not observed in large population cohorts (Lek 2016). BRCA2 Leu88Arg is not located in a known functional domain. 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 Leu88Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000509986 SCV000688765 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586977 SCV000694610 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing Variant summary: c.263T>G affects a non-conserved nucleotide, resulting in amino acid change from Leu to Arg. 4/5 in-silico tools predict this variant to be damaging. This variant was not found in 120766 control chromosomes, and it has not been, to our knowledge, 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 was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113332 SCV000146470 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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