ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2406_2409del (p.Gln804fs) (rs80357674)

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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) RCV000111845 SCV000299763 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047827 SCV000075840 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln804Valfs*10) in the BRCA1 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 been observed in an individual with a personal and/or family history of breast and/or ovarian cancer (PMID: 16030099). This variant is also known as 2525del4 in the literature. ClinVar contains an entry for this variant (Variation ID: 54559). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111845 SCV000325346 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561582 SCV000673012 pathogenic Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA1) RCV000111845 SCV000144410 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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