ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3424del (p.Ala1142fs)

dbSNP: rs1555587718
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Total submissions: 3
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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) RCV000661002 SCV000783242 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506515 SCV000600333 pathogenic not provided 2016-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020267 SCV001181723 pathogenic Hereditary cancer-predisposing syndrome 2018-02-28 criteria provided, single submitter clinical testing The c.3424delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3424, causing a translational frameshift with a predicted alternate stop codon (p.A1142Hfs*13). 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.

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