ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7130_7144del (p.Asn2377_Gln2381del)

dbSNP: rs1472879431
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561992 SCV000667479 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-05 criteria provided, single submitter clinical testing The c.7130_7144del15 variant (also known as p.N2377_Q2381del) is located in coding exon 15 of the APC gene. This variant results from an in-frame ACCTTACCAAACAAA deletion at nucleotide positions 7130 to 7144. This results in the deletion of five amino acids between codons 2377 and 2381. This region is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003537120 SCV002269139 uncertain significance Familial adenomatous polyposis 1 2023-07-22 criteria provided, single submitter clinical testing This variant, c.7130_7144del, results in the deletion of 5 amino acid(s) of the APC protein (p.Asn2377_Gln2381del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 482291). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%).
Sema4, Sema4 RCV000561992 SCV002527446 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-02 criteria provided, single submitter curation
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002530261 SCV003807386 uncertain significance Familial adenomatous polyposis 1 2023-02-03 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 supporting, PM4

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