ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)

dbSNP: rs80357833
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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) RCV000241076 SCV000300173 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241076 SCV000326066 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics, Oslo University Hospital RCV000241076 SCV000564326 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-07-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000241076 SCV004032271 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2023-08-07 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2_SUP
Invitae RCV003530022 SCV004297795 pathogenic Hereditary breast ovarian cancer syndrome 2023-05-02 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25863477, 29339979). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1645Lysfs*14) 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). ClinVar contains an entry for this variant (Variation ID: 254459). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000241076 SCV000145211 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785417 SCV000923989 pathogenic Neoplasm of ovary 2018-12-01 no assertion criteria provided research

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