ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs)

dbSNP: rs1597831850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818593 SCV000959215 pathogenic Hereditary breast ovarian cancer syndrome 2021-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 661222). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1568Glufs*34) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002332692 SCV002633920 pathogenic Hereditary cancer-predisposing syndrome 2021-12-07 criteria provided, single submitter clinical testing The c.4699_4700dupGG variant, located in coding exon 14 of the BRCA1 gene, results from a duplication of GG at nucleotide position 4699, causing a translational frameshift with a predicted alternate stop codon (p.I1568Efs*34). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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