ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)

dbSNP: rs80356935
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Total submissions: 13
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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) RCV000111534 SCV000299529 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000047321 SCV000296789 pathogenic Familial cancer of breast 2016-07-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111534 SCV000324942 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics, Oslo University Hospital RCV000111534 SCV000564294 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000519898 SCV000618409 pathogenic not provided 2022-09-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in several individuals with a personal and/or family history of BRCA1-related cancers (Apessos et al., 2018; Carter et al., 2018; Heramb et al., 2018; Bahsi et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 1178G>A; This variant is associated with the following publications: (PMID: 29310832, Bahsi2020[case report], 30322717, 29339979, 25452441, 29446198, 31477031)
Color Diagnostics, LLC DBA Color Health RCV001186964 SCV001353586 pathogenic Hereditary cancer-predisposing syndrome 2023-05-26 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been detected in at least one individual each affected with breast or ovarian cancer (PMID: 25452441, 30322717) and in suspected hereditary breast and ovarian cancer families and among CIMBA participants (PMID: 29310832, 29339979, 29446198). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV000111534 SCV001499624 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-04-02 criteria provided, single submitter clinical testing
Invitae RCV000496330 SCV001587268 pathogenic Hereditary breast ovarian cancer syndrome 2022-05-16 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with a personal or family history of breast cancer and/or ovarian cancer (PMID: 25452441, 29310832, 29339979, 29446198, 30322717). ClinVar contains an entry for this variant (Variation ID: 54110). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp353*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency).
Breast Cancer Information Core (BIC) (BRCA1) RCV000111534 SCV000143991 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496330 SCV000587097 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000519898 SCV001951170 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000519898 SCV001972168 pathogenic not provided no assertion criteria provided clinical testing
BRCAlab, Lund University RCV000111534 SCV004244137 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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