ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5250del (p.Lys1750fs)

dbSNP: rs1555576868
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575440 SCV000661062 pathogenic Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing The c.5250delG pathogenic mutation, located in coding exon 18 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5250, causing a translational frameshift with a predicted alternate stop codon (p.K1750Nfs*15). 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 RCV001050895 SCV001215024 pathogenic Hereditary breast ovarian cancer syndrome 2019-04-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 479226). 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1750Asnfs*15) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.

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