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NM_000038.6(APC):c.4473dup (p.Ala1492fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 9, 2018)
Last evaluated:
Jan 11, 2018
Accession:
VCV000092347.2
Variation ID:
92347
Description:
1bp duplication
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NM_000038.6(APC):c.4473dup (p.Ala1492fs)

Allele ID
98258
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112840063-112840064 (GRCh38) GRCh38 UCSC
5: 112175760-112175761 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_130:g.152547dup
NC_000005.10:g.112840067dup
NC_000005.9:g.112175764dup
... more HGVS
Protein change
A1209fs, A1451fs, A1492fs, A1332fs, A1366fs, A1391fs, A1433fs, A1464fs, A1474fs, A1502fs, A1510fs, A1401fs, A1467fs
Other names
-
Canonical SPDI
NC_000005.10:112840063:TTTT:TTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA009567
dbSNP: rs398123122
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 11, 2018 RCV000174979.2
Pathogenic 1 criteria provided, single submitter May 16, 2016 RCV000722013.1
Pathogenic 1 criteria provided, single submitter Jun 25, 2013 RCV000790817.1
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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
(Jun 25, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000226394.4
Submitted: (Nov 03, 2016)
Comment:
Frameshift: Variant is of a type predicted to cause disease.
Evidence details
Publications
PubMed (1)
Other databases
http://geneticslab.emory.edu/emv…
Comment:
Frameshift: Variant is of a type predicted to cause disease.
Pathogenic
(Jan 11, 2018)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000768190.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (9)
Comment:
This sequence change results in a premature translational stop signal in the APC gene (p.Ala1492Cysfs*22). While this is not anticipated to result in nonsense mediated … (more)
Pathogenic
(May 16, 2016)
criteria provided, single submitter
Method: clinical testing
Desmoid tumors
Allele origin: germline
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital
Accession: SCV000853186.1
Submitted: (Aug 09, 2018)
Evidence details
Comment:
This is a duplication of coding position 4473 (insertion of a T) and is predicted to change an Alanine to a Cysteine at codon 1492, … (more)

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
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ Human mutation 2013 PMID: 23757202
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families. Schwarzová L Familial cancer 2013 PMID: 22987206
A survey of APC mutations in Quebec. Jarry J Familial cancer 2011 PMID: 21779980
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. Rohlin A Oncogene 2011 PMID: 21643010
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. Lagarde A Journal of medical genetics 2010 PMID: 20685668
Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. Jang YH Cancer genetics and cytogenetics 2010 PMID: 20513532
Regulated binding of adenomatous polyposis coli protein to actin. Moseley JB The Journal of biological chemistry 2007 PMID: 17293347
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. Friedl W Hereditary cancer in clinical practice 2005 PMID: 20223039
EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration. Wen Y Nature cell biology 2004 PMID: 15311282
Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Gayther SA Human molecular genetics 1994 PMID: 8162051
http://geneticslab.emory.edu/emvclass/emvclass.php?approved_symbol=APC - - - -

Text-mined citations for rs398123122...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021