ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1994del (p.Gly665fs)

dbSNP: rs267606674
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463233 SCV000548649 pathogenic Oligodontia-cancer predisposition syndrome 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly665Alafs*24) in the AXIN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AXIN2 are known to be pathogenic (PMID: 15042511, 21416598). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 5880). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002415401 SCV002720025 pathogenic Hereditary cancer-predisposing syndrome 2021-09-15 criteria provided, single submitter clinical testing The c.1994delG pathogenic mutation, located in coding exon 7 of the AXIN2 gene, results from a deletion of one nucleotide at nucleotide position 1994, causing a translational frameshift with a predicted alternate stop codon (p.G665Afs*24). 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.
Myriad Genetics, Inc. RCV000463233 SCV004045204 pathogenic Oligodontia-cancer predisposition syndrome 2023-05-17 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003472981 SCV004213153 likely pathogenic Colorectal cancer 2022-07-05 criteria provided, single submitter clinical testing
OMIM RCV000006238 SCV000026420 pathogenic Carcinoma of colon 2000-10-01 no assertion criteria provided literature only

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