ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4159_4160TC[1] (p.Gln1388fs) (rs80357565)

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Total submissions: 7
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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) RCV000112271 SCV000300082 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 RCV000048461 SCV000076474 pathogenic Hereditary breast and ovarian cancer syndrome 2016-11-21 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 11 of the BRCA1 mRNA (c.4161_4162delTC), causing a frameshift at codon 1388. This creates a premature translational stop signal (p.Gln1388Glufs*2) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with breast or ovarian cancer (PMID: 11938448, 23479189, 22460208, 18489799). This variant is also known as 4280delTC in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000162873 SCV000213360 pathogenic Hereditary cancer-predisposing syndrome 2016-12-20 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 RCV000112271 SCV000325869 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758824 SCV000887689 pathogenic not provided 2018-08-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112271 SCV000144998 pathogenic Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048461 SCV000587377 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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