ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter) (rs80357215)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162844 SCV000213331 pathogenic Hereditary cancer-predisposing syndrome 2018-03-12 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)
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786906 SCV000925807 pathogenic Familial cancer of breast 2018-11-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111538 SCV000143995 pathogenic Breast-ovarian cancer, familial 1 2007-10-05 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111538 SCV000324943 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) RCV000111538 SCV000299530 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 RCV000493346 SCV000582406 pathogenic not provided 2015-09-18 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.1066C>T at the cDNA level and p.Gln356Ter (Q356X) at the protein level. Using alternate nomenclature, this variant would also be defined as BRCA1 1185C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least four breast and/or ovarian cancer families (van der Hout 2006, Tang 1999) and is considered pathogenic.
Genologica Medica RCV000111538 SCV000577920 pathogenic Breast-ovarian cancer, familial 1 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000047325 SCV000075338 pathogenic Hereditary breast and ovarian cancer syndrome 2016-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 356 (p.Gln356*) of 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. This particular variant has been reported in the literature in individuals affected with hereditary breast and ovarian cancer (PMID: 16683254, 20406929). For these reasons, this variant has been classified as Pathogenic.

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