ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4182_4183dup (p.Gln1395fs) (rs80357742)

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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) RCV000143835 SCV000300088 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 RCV000221513 SCV000278475 pathogenic Hereditary cancer-predisposing syndrome 2017-11-14 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)
GeneDx RCV000235957 SCV000292521 pathogenic not provided 2015-11-12 criteria provided, single submitter clinical testing This duplication of 2 nucleotides in BRCA1 is denoted c.4182_4183dupTC at the cDNA level and p.Gln1395LeufsX11 (Q1395LfsX11) at the protein level. The normal sequence, with the bases that are duplicated in braces, is CCAC[TC]AGgt, where the capital letters are exonic and lowercase are intronic. The duplication causes a frameshift, which changes a Glutamine to a Leucine at codon 1395, and creates a premature stop codon at position 11 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.4182_4183dupTC, also reported as BRCA1 Q1395fs, has been observed in at least one woman with serous ovarian cancer (Yang 2011). We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000143835 SCV000115121 pathogenic Breast-ovarian cancer, familial 1 2012-03-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000143835 SCV000145006 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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