ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) (rs62625306)

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Total submissions: 14
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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) RCV000019252 SCV000282278 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000212169 SCV000210131 pathogenic not provided 2015-04-27 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.2389G>T at the cDNA level and p.Glu797Ter (E797X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also known as 2508G>T using alternative nomenclature, has been reported in association with familial breast cancer and ovarian cancer (Liede 1998, Yang 2011) and is considered pathogenic.
Ambry Genetics RCV000162856 SCV000213343 pathogenic Hereditary cancer-predisposing syndrome 2017-03-22 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)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000496416 SCV000219217 pathogenic Hereditary breast and ovarian cancer syndrome 2016-12-23 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000019252 SCV000325340 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000019252 SCV000564298 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496416 SCV000591384 likely pathogenic Hereditary breast and ovarian cancer syndrome 2012-11-19 criteria provided, single submitter clinical testing
Counsyl RCV000019252 SCV000785826 pathogenic Breast-ovarian cancer, familial 1 2017-12-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769717 SCV000901137 pathogenic Breast and/or ovarian cancer 2017-10-30 criteria provided, single submitter clinical testing
Color RCV000162856 SCV000911642 pathogenic Hereditary cancer-predisposing syndrome 2018-03-25 criteria provided, single submitter clinical testing
OMIM RCV000019252 SCV000039540 pathogenic Breast-ovarian cancer, familial 1 1998-06-01 no assertion criteria provided literature only
Sharing Clinical Reports Project (SCRP) RCV000019252 SCV000109316 pathogenic Breast-ovarian cancer, familial 1 2012-12-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000019252 SCV000144400 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 RCV000496416 SCV000587209 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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