ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3351dup (p.Gln1118fs) (rs80357785)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000112077 SCV000144733 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112077 SCV000325627 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000112077 SCV000488690 likely pathogenic Breast-ovarian cancer, familial 1 2016-05-24 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112077 SCV000299928 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000589888 SCV000699023 pathogenic Hereditary breast and ovarian cancer syndrome 2016-05-11 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3351dupT (p.Gln1118Serfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3358_3359delGT (p.Val1120fs), c.3365_3366delCA (p.Thr1122fs) and 3400G>T (p.Glu1134X)). This variant is absent in 121140 control chromosomes. In addition, a reputable database classified this variant as Pathogenic. Taken together, this variant is classified as Pathogenic.
Invitae RCV000589888 SCV000937532 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1118Serfs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast and/or ovarian cancer (PMID: 23096105, 27062684, 29446198). This variant is also known as 3470insT in the literature. ClinVar contains an entry for this variant (Variation ID: 125630). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112077 SCV000296483 pathogenic Breast-ovarian cancer, familial 1 2016-06-07 criteria provided, single submitter clinical testing

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