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NM_000038.6(APC):c.4139C>T (p.Thr1380Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 1, 2017
Accession:
VCV000233890.2
Variation ID:
233890
Description:
single nucleotide variant
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NM_000038.6(APC):c.4139C>T (p.Thr1380Ile)

Allele ID
233100
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112839733 (GRCh38) GRCh38 UCSC
5: 112175430 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112839733C>T
NC_000005.9:g.112175430C>T
NM_001354896.2:c.4193C>T NP_001341825.1:p.Thr1398Ile missense
... more HGVS
Protein change
T1362I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10578369
dbSNP: rs876660713
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 13, 2015 RCV000223239.1
Uncertain significance 1 criteria provided, single submitter Jun 1, 2017 RCV000522947.1
Uncertain significance 1 criteria provided, single submitter May 24, 2017 RCV000557126.1
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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
6125 6156

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 24, 2017)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000647498.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces threonine with isoleucine at codon 1380 of the APC protein (p.Thr1380Ile). The threonine residue is highly conserved and there is a ... (more)
Uncertain significance
(Sep 13, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000278355.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Uncertain significance
(Jun 01, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000618508.1
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted APC c.4139C>T at the cDNA level, p.Thr1380Ile (T1380I) at the protein level, and results in the change of a Threonine to ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 14, 2020