ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3791del (p.Lys1264fs)

dbSNP: rs1567790067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759527 SCV000888899 likely pathogenic not provided 2017-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021151 SCV001182730 pathogenic Hereditary cancer-predisposing syndrome 2022-03-01 criteria provided, single submitter clinical testing The c.3791delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3791, causing a translational frameshift with a predicted alternate stop codon (p.K1264Rfs*4). 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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