ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3462dup (p.Asp1155fs)

dbSNP: rs80357857
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Total submissions: 6
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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) RCV000112101 SCV000299947 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Michigan Medical Genetics Laboratories, University of Michigan RCV000112101 SCV000267705 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-04-21 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112101 SCV000325660 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV002514558 SCV003347347 pathogenic Hereditary breast ovarian cancer syndrome 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1155Argfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 125632). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112101 SCV000144769 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing
Laboratory for Genotyping Development, RIKEN RCV003162524 SCV002758308 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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