ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1700dup (p.Asn567fs) (rs80357784)

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Total submissions: 4
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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) RCV000111666 SCV000299636 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502858 SCV000591347 pathogenic Hereditary breast and ovarian cancer syndrome 2014-08-21 criteria provided, single submitter clinical testing
Invitae RCV000502858 SCV000827236 pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn567Lysfs*3) 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 individuals affected with breast, ovarian, or pancreatic cancer (PMID: 27882536). ClinVar contains an entry for this variant (Variation ID: 125508). 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) RCV000111666 SCV000144159 pathogenic Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing

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