ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer)

dbSNP: rs397507207
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Total submissions: 6
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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) RCV000031076 SCV000299865 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031076 SCV000325514 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics, Oslo University Hospital RCV000031076 SCV000564356 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573157 SCV000665048 pathogenic Hereditary cancer-predisposing syndrome 2017-08-15 criteria provided, single submitter clinical testing The c.2981_2982delGT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 2981 to 2982, causing a translational frameshift with a predicted alternate stop codon (p.C994*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Color Diagnostics, LLC DBA Color Health RCV000573157 SCV001736650 pathogenic Hereditary cancer-predisposing syndrome 2020-10-07 criteria provided, single submitter clinical testing This variant deletes 2 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. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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.
Sharing Clinical Reports Project (SCRP) RCV000031076 SCV000053672 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2011-03-30 no assertion criteria provided clinical testing

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