ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2269del (p.Val757fs) (rs80357583)

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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) RCV000031040 SCV000282276 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000215693 SCV000275788 pathogenic Hereditary cancer-predisposing syndrome 2015-05-13 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031040 SCV000325310 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000486157 SCV000568420 pathogenic not provided 2018-11-14 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.2269delG at the cDNA level and p.Val757PhefsX8 (V757FfsX8) at the protein level. The normal sequence, with the base that is deleted in brackets, is AAGG[delG]TTTTG. The deletion causes a frameshift which changes a Valine to a Phenylalanine at codon 757, and creates a premature stop codon at position 8 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.2269delG, also published as 2388delG using alternate nomenclature, has been reported in patients with personal and/or family histories of breast and ovarian cancer (Stoppa-Lyonnet 1997, Rashid 2006, Ramus 2007, Stegel 2011, Kang 2015, Minucci 2015, Kwong 2016). We consider this variant to be pathogenic.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769719 SCV000901139 pathogenic Breast and/or ovarian cancer 2017-10-24 criteria provided, single submitter clinical testing
Color RCV000215693 SCV000911348 pathogenic Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031040 SCV000053634 pathogenic Breast-ovarian cancer, familial 1 2009-12-14 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031040 SCV000144362 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 RCV000496582 SCV000587204 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000486157 SCV000778760 pathogenic not provided 2017-03-29 no assertion criteria provided clinical testing

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