ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) (rs273898681)

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Total submissions: 7
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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) RCV000111784 SCV000282274 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111784 SCV000325277 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000111784 SCV000785409 likely pathogenic Breast-ovarian cancer, familial 1 2017-07-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985382 SCV001133517 pathogenic not provided 2018-11-16 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Invitae RCV001390606 SCV001592394 pathogenic Hereditary breast and ovarian cancer syndrome 2020-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu730Thrfs*5) 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 reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333) and Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 54489). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Color Health, Inc RCV001525607 SCV001735774 pathogenic Hereditary cancer-predisposing syndrome 2020-08-04 criteria provided, single submitter clinical testing This variant deletes 14 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111784 SCV000144326 pathogenic Breast-ovarian cancer, familial 1 2005-12-20 no assertion criteria provided clinical testing

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