ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) (rs80356962)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414344 SCV000492458 pathogenic Neoplasm of the breast criteria provided, single submitter research
Ambry Genetics RCV000162887 SCV000213374 pathogenic Hereditary cancer-predisposing syndrome 2017-10-04 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) RCV000112656 SCV000145516 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112656 SCV000326313 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000112656 SCV000677662 pathogenic Breast-ovarian cancer, familial 1 2016-12-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000167788 SCV000591633 pathogenic Hereditary breast and ovarian cancer syndrome 2014-04-16 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112656 SCV000300259 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735516 SCV000863654 pathogenic Breast and/or ovarian cancer 2014-01-20 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763398 SCV000894124 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000048996 SCV000210221 pathogenic not provided 2015-06-26 criteria provided, single submitter clinical testing This is a nonsense variant, denoted BRCA1 c.5444G>A at the cDNA level and p.Trp1815Ter (W1815X) at the protein level. The substitution creates a nonsense variant, changing a Tryptophan to a premature stop codon (TGG>TAG). This variant is predicted to cause loss of normal protein function through protein truncation. This variant, also denoted as 5563G>A using alternate nomenclature, has been reported in association with breast and ovarian cancer (Montagna 1996).
GeneKor MSA RCV000162887 SCV000693545 pathogenic Hereditary cancer-predisposing syndrome 2017-11-01 criteria provided, single submitter clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785212 SCV000923780 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Integrated Genetics/Laboratory Corporation of America RCV000167788 SCV000699254 pathogenic Hereditary breast and ovarian cancer syndrome 2016-03-21 criteria provided, single submitter clinical testing
Invitae RCV000167788 SCV000077009 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal within the penultimate exon of the BRCA1 mRNA at codon 1815 (p.Trp1815*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 49 amino acids of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals and families affected with hereditary breast and/or ovarian cancer, segregating with disease in a family (PMID: 8968102, 26187060, 20104584). It is also known as 5563G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 55580). This variant has been reported to create a truncated BRCA1 protein that is expected to result in loss of a portion of the C-terminal BRCT-C functional domain (PMID: 8968102). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000167788 SCV000839208 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112656 SCV000267720 pathogenic Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000167788 SCV000587509 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000112656 SCV000297621 pathogenic Breast-ovarian cancer, familial 1 2008-03-11 no assertion criteria provided clinical testing

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