ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.(5074+1-5075-1)_(5193+1_5194-1)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708769 SCV000822216 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variant is a large genomic deletion which encompasses two exons (17-18) of the BRCA1 gene. This variant results in an out-of-frame deletion of 39 amino acid residues and an unrecognizable protein product after position 1692 finally creating a novel termination codon 2 amino acid residues later. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been described in the international literature in the individuals with breast cancer (PMID: 17018160) and in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747). For these reasons this variant has been classified as pathogenic.

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