ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)

dbSNP: rs1555284559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588279 SCV000694937 likely pathogenic Hereditary breast ovarian cancer syndrome 2016-09-20 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6116T>G (p.Leu2039X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.6270_6271delTA, p.His2090fsX9; c.6275_6276delTT, p.Leu2092fsX7; c.6333_6337delGAGAA, p.Arg2112fsX15). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 120840 control chromosomes and has not been reported in the literature. UMD cites the variant in 2 individuals with a classification of pathogenic. Taken together, this variant is classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000588279 SCV004465530 pathogenic Hereditary breast ovarian cancer syndrome 2024-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2039*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 29409476). ClinVar contains an entry for this variant (Variation ID: 495478). For these reasons, this variant has been classified as Pathogenic.

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