ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1340_1341insG (p.His448fs) (rs80357597)

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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) RCV000111592 SCV000299583 pathogenic Breast-ovarian cancer, familial 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 RCV000111592 SCV000325030 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000697117 SCV000825711 pathogenic Hereditary breast and ovarian cancer syndrome 2018-02-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His448Serfs*8) 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 reported in an individual with a personal and/or family history of breast and/or ovarian cancer (PMID: 28324225). ClinVar contains an entry for this variant (Variation ID: 37401). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000697117 SCV000839287 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111592 SCV000144062 pathogenic Breast-ovarian cancer, familial 1 2006-05-05 no assertion criteria provided clinical testing

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