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APC, 2-BP INS, CODON 1924

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 1996
Accession:
VCV000000818.2
Variation ID:
818
Description:
insertion
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APC, 2-BP INS, CODON 1924

Allele ID
15857
Variant type
Insertion
Variant length
-
Cytogenetic location
5q21-q22
Genomic location
-
HGVS
-
Protein change
-
Other names
2-BP INS, CODON 1924
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 611731.0025
Comment on variant
NCBI staff could not confirm the published amino acid change on current reference sequence after review of PubMed 8940264.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 1996 RCV000000860.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
APC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
8964 8998

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 1996)
no assertion criteria provided
Method: literature only
DESMOID DISEASE, HEREDITARY
Allele origin: germline
OMIM
Accession: SCV000021010.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Eccles DM American journal of human genetics 1996 PMID: 8940264

Record last updated Oct 08, 2021