ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1551del (p.Phe517fs) (rs80357630)

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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) RCV000111645 SCV000299619 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 RCV000047520 SCV000075533 pathogenic Hereditary breast and ovarian cancer syndrome 2014-09-16 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 10 of the BRCA1 mRNA (c.1551delT), causing a frameshift at codon 517. This creates a premature translational stop signal (p.Phe517Leufs*15) and is expected to result in an absent or disrupted protein product. Truncating sequence changes in BRCA1 are known to be pathogenic. This particular truncation has been reported in the literature. This sequence change has been reported in a family affected with breast cancer (PMID: 22762150 supplement) and is not present in population databases. It has also been reported in affected patients in the Universal Mutation Database (PMID: 22144684) and the Breast Cancer Information Core database (PMID: 10923033). This sequence change is also known as c.1670delT in the literature. For these reasons, this sequence change has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111645 SCV000325098 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111645 SCV000144129 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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