ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer)

dbSNP: rs1135401859
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Total submissions: 4
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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) RCV000661066 SCV000783313 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Color Diagnostics, LLC DBA Color Health RCV001524385 SCV001734211 pathogenic Hereditary cancer-predisposing syndrome 2020-12-07 criteria provided, single submitter clinical testing This variant deletes 5 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.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496619 SCV000587287 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353609 SCV000591431 pathogenic Malignant tumor of breast no assertion criteria provided clinical testing The p.Met1083X variant has not been identified in the literature. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence leading to a premature stop at codon 1083, resulting in a truncated or absent protein, and loss of function. Loss of function of the BRCA1 gene is an established disease mechanism in hereditary breast cancer patients. In summary, based on the above information, this variant is classified as pathogenic.

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