ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1836dup (p.Arg613fs)

dbSNP: rs876660523
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Total submissions: 4
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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) RCV000661239 SCV000783501 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.
Ambry Genetics RCV000217364 SCV000278030 pathogenic Hereditary cancer-predisposing syndrome 2021-10-13 criteria provided, single submitter clinical testing The c.1836dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 1836, causing a translational frameshift with a predicted alternate stop codon (p.R613Efs*12). 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.
Invitae RCV000697293 SCV000825893 pathogenic Hereditary breast ovarian cancer syndrome 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg613Glufs*12) 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: 233617). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000661239 SCV004216914 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2022-09-04 criteria provided, single submitter clinical testing

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