ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2570del (p.Gly857fs)

dbSNP: rs876658472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216864 SCV000273739 pathogenic Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter clinical testing The c.2570delG pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at position 2570, causing a translational frameshift with a predicted alternate stop codon. This variant was previously described in individuals with familial adenomatous polyposis (Friedl W, et al. Gut 2001 Apr; 48(4):515-21. Aceto G, et al. Hum. Mutat. 2005 Oct; 26(4):394). In addition to the clinical data presented in the literature, 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. RCV003337253 SCV004045124 pathogenic Familial adenomatous polyposis 1 2023-05-04 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502529 SCV000591112 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The c.2570del (p.Gly857GlufsX4) mutation has been previously identified in the literature in two individuals with clinically diagnosed FAP (Friedl_2001_11247896, Aceto_2005_16134147). In one individual, a family history and vertical transmission of the mutation with disease was demonstrated (Aceto_2005_16134147). This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 857 and leads to a premature stop codon 4 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function variants are an established mechanism of disease for the APC gene. In summary, based on the above information, this variant is pathogenic.

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