ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2197_2201del (p.Glu733fs) (rs80357507)

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Total submissions: 10
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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) RCV000111789 SCV000299716 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000254636 SCV000210020 pathogenic not provided 2017-02-20 criteria provided, single submitter clinical testing This deletion of five nucleotides in BRCA1 is c.2197_2201delGAGAA at the cDNA level and p.Glu733ThrfsX5 (E733TfsX5) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AGAA[delGAGAA]ACTA. The deletion causes a frameshift, which changes a Glutamic Acid to a Threonine at codon 733, and creates a premature stop codon at position 5 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 2197_2201delGAGAA, also known as 2316del5 using alternate nomenclature, has been reported in association with breast and/or ovarian cancer (Shih 2002, van der Hout 2006, Caux-Moncoutier 2011, De Leeneer 2012, Weren 2016). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000111789 SCV000296340 pathogenic Breast-ovarian cancer, familial 1 2015-05-14 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111789 SCV000325282 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561926 SCV000660941 pathogenic Hereditary cancer-predisposing syndrome 2016-09-06 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)
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111789 SCV000744664 pathogenic Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111789 SCV000144331 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Division Human Genetics,Medical University Innsbruck RCV000111789 SCV000211995 pathogenic Breast-ovarian cancer, familial 1 2015-02-11 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496270 SCV000587197 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000111789 SCV000733647 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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