ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5106del (p.Lys1702fs) (rs80357553)

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Total submissions: 8
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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) RCV000112499 SCV000300201 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 RCV000048796 SCV000076809 pathogenic Hereditary breast and ovarian cancer syndrome 2016-06-07 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 17 of the BRCA1 mRNA (c.5106delA), causing a frameshift at codon 1702. This creates a premature translational stop signal (p.Lys1702Asnfs*4) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in the literature in individuals with breast and/or ovarian cancer (PMID: 11938448, 17148771). This variant is also known as 5225delA in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000166104 SCV000216871 pathogenic Hereditary cancer-predisposing syndrome 2014-09-22 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 RCV000112499 SCV000326156 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048796 SCV000591580 pathogenic Hereditary breast and ovarian cancer syndrome 2013-05-13 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112499 SCV000145315 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048796 SCV000587464 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735493 SCV000863631 pathogenic Breast and/or ovarian cancer 2015-09-16 no assertion criteria provided clinical testing

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