ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.20_23del (p.Glu7fs)

dbSNP: rs397507623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543903 SCV000635196 pathogenic Hereditary breast ovarian cancer syndrome 2021-01-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu7Glyfs*17) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV003159796 SCV003855545 pathogenic Hereditary cancer-predisposing syndrome 2022-12-19 criteria provided, single submitter clinical testing The c.20_23delAGAG pathogenic mutation, located in coding exon 1 of the BRCA2 gene, results from a deletion of 4 nucleotides at nucleotide positions 20 to 23, causing a translational frameshift with a predicted alternate stop codon (p.E7Gfs*17). 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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