ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1256dup (p.Asp420fs)

dbSNP: rs786203103
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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) RCV000240975 SCV000299566 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000166261 SCV000217041 pathogenic Hereditary cancer-predisposing syndrome 2014-10-09 criteria provided, single submitter clinical testing The c.1256dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 1256, causing a translational frameshift with a predicted alternate stop codon (p.D420Rfs*2). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005089822 SCV005839552 pathogenic Hereditary breast ovarian cancer syndrome 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp420Argfs*2) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 186634). For these reasons, this variant has been classified as Pathogenic.

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