ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3825del (p.Leu1276fs)

dbSNP: rs1555586983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532817 SCV000635920 pathogenic Hereditary breast ovarian cancer syndrome 2022-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1276Trpfs*31) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 462622). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002367828 SCV002623785 pathogenic Hereditary cancer-predisposing syndrome 2019-10-08 criteria provided, single submitter clinical testing The c.3825delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3825, causing a translational frameshift with a predicted alternate stop codon (p.L1276Wfs*31). 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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