ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.19_47del (p.Arg7fs) (rs80359871)

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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) RCV000111579 SCV000299394 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000163512 SCV000214070 pathogenic Hereditary cancer-predisposing syndrome 2016-06-01 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111579 SCV000325172 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000792531 SCV000931834 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg7Cysfs*24) 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 several individuals with personal or family history of breast and/or ovarian cancer (PMID: 21120943, 27656653, 22762150). ClinVar contains an entry for this variant (Variation ID: 125491). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111579 SCV000144047 pathogenic Breast-ovarian cancer, familial 1 1999-06-23 no assertion criteria provided clinical testing

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