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NM_000038.6(APC):c.3308G>A (p.Arg1103Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Jun 22, 2018
Accession:
VCV000570983.1
Variation ID:
570983
Description:
single nucleotide variant
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NM_000038.6(APC):c.3308G>A (p.Arg1103Lys)

Allele ID
562413
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112838902 (GRCh38) GRCh38 UCSC
5: 112174599 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112838902G>A
NC_000005.9:g.112174599G>A
NM_000038.6:c.3308G>A NP_000029.2:p.Arg1103Lys missense
... more HGVS
Protein change
R1085K
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs200371555
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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 Jun 22, 2018 RCV000691992.1
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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
(Jun 22, 2018)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000819797.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with lysine at codon 1103 of the APC protein (p.Arg1103Lys). The arginine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Jan 14, 2020