ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs) (rs398122670)

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Total submissions: 8
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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) RCV000077119 SCV000323535 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000204430 SCV000260016 pathogenic Hereditary breast and ovarian cancer syndrome 2019-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro968Leufs*33) 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 ovarian cancer (PMID: 24137399, 23683081, 25136594). This variant is also known as c.2901insCT and c.2900_2901dupCT in the literature. ClinVar contains an entry for this variant (Variation ID: 91602). 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 RCV000077119 SCV000296471 pathogenic Breast-ovarian cancer, familial 1 2016-05-13 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077119 SCV000325494 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568770 SCV000661015 pathogenic Hereditary cancer-predisposing syndrome 2016-03-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Good segregation with disease (lod 1.5-3 = 5-9 meioses);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Integrated Genetics/Laboratory Corporation of America RCV000204430 SCV000916791 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-31 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.2901_2902dupTC (p.Pro968LeufsX33) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 246162 control chromosomes (gnomAD). The variant, c.2901_2902dupTC (also known as 3020insCT, 2901incCT, 2900_2901dupCT) has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer, including in one family where it segregated with disease (Blay_2013, Ruiz_2014). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Color RCV000568770 SCV001346140 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077119 SCV000108916 pathogenic Breast-ovarian cancer, familial 1 2012-09-15 no assertion criteria provided clinical testing

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