Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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 |
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. |