ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708768 SCV000822215 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variant is a large genomic deletion which encompasses exon 7 of the BRCA1 gene. This deletion removes the entire exon, causing a frameshift at codon 182 of the BRCA1 protein. 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:12670888) and in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785187 SCV000923755 pathogenic Neoplasm of ovary 2018-12-01 no assertion criteria provided research

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