ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)

dbSNP: rs2137510225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950993 SCV002240148 pathogenic Hereditary breast ovarian cancer syndrome 2021-02-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1598Glnfs*2) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002484799 SCV002793875 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 2022-04-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003453871 SCV004190003 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2023-09-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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