ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.805dup (p.Thr269fs)

dbSNP: rs886040744
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Total submissions: 7
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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) RCV000257761 SCV000324619 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 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 RCV000257761 SCV000327809 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Research Institute, Aichi Cancer Center RCV002225100 SCV002503890 pathogenic Hereditary breast ovarian cancer syndrome 2022-02-01 criteria provided, single submitter research
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493558 SCV004242760 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002225100 SCV004551693 pathogenic Hereditary breast ovarian cancer syndrome 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr269Asnfs*7) 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 and/or ovarian cancer (PMID: 29176636, 30287823). ClinVar contains an entry for this variant (Variation ID: 267053). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Genotyping Development, RIKEN RCV003165714 SCV002758294 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research
BRCAlab, Lund University RCV000257761 SCV004244059 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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