ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2515del (p.His839fs) (rs80357607)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131999 SCV000187058 pathogenic Hereditary cancer-predisposing syndrome 2017-02-17 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)
Breast Cancer Information Core (BIC) (BRCA1) RCV000031055 SCV000144464 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131999 SCV000905033 pathogenic Hereditary cancer-predisposing syndrome 2018-02-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031055 SCV000325380 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031055 SCV000299782 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 RCV000236698 SCV000292994 pathogenic not provided 2017-04-17 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.2515delC at the cDNA level and p.His839ThrfsX7 (H839TfsX7) at the protein level. The normal sequence, with the base that is deleted in brackets, is TAAC[delC]ACAG. The deletion causes a frameshift, which changes a Histidine to a Threonine at codon 839, and creates a premature stop codon at position 7 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.2515delC, also reported as BRCA1 2634delC using alternate nomenclature, has been observed in individuals with breast cancer (King 2001, Borg 2010, Dulude 2011) and we consider this variant to be pathogenic.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785404 SCV000923976 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496628 SCV000587227 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031055 SCV000053649 pathogenic Breast-ovarian cancer, familial 1 2010-10-15 no assertion criteria provided clinical testing

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