ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1156del (p.Glu386fs)

dbSNP: rs397507262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031307 SCV000300399 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031307 SCV000326505 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000637352 SCV000758807 pathogenic Hereditary breast ovarian cancer syndrome 2019-10-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 37726). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu386Lysfs*13) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.
Sharing Clinical Reports Project (SCRP) RCV000031307 SCV000053912 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2008-01-22 no assertion criteria provided clinical testing
Laboratory for Genotyping Development, RIKEN RCV003162266 SCV002758410 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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