ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs) (rs80357640)

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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) RCV000077494 SCV000299638 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077494 SCV000325124 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000483355 SCV000568425 pathogenic not provided 2017-07-28 criteria provided, single submitter clinical testing This deletion of 5 nucleotides in BRCA1 is denoted c.1713_1717delAGAAT at the cDNA level and p.Glu572ThrfsX12 (E572TfsX12) at the protein level. The normal sequence, with the bases that are deleted in braces, is CAAT[AGAAT]CACT. Using alternate nomenclature, this variant has previously been published as BRCA1 1832del5. The deletion causes a frameshift which changes a Glutamic Acid to a Threonine at codon 572, and creates a premature stop codon at position 12 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.1713_1717delAGAAT has been observed in multiple individuals with personal and family histories of breast and ovarian cancer and is considered to be a founder pathogenic variant in the African American population (Gao 1997, Frank 1998, Nanda 2005, John 2007, Churpek 2015). We consider this variant to be pathogenic.
Ambry Genetics RCV000571930 SCV000660940 pathogenic Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000483355 SCV001133494 pathogenic not provided 2018-09-07 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.
Sharing Clinical Reports Project (SCRP) RCV000077494 SCV000109292 pathogenic Breast-ovarian cancer, familial 1 2006-03-09 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077494 SCV000144163 pathogenic Breast-ovarian cancer, familial 1 1997-11-14 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496485 SCV000587158 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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