chr5:112154969:C>T Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,154,969-112,154,969
hg38 chr5:112,819,272-112,819,272 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.1240C>T NP_000029.2:p.Arg414Cys
NM_001127511.2:c.1186C>T NP_001120983.2:p.Arg396Cys
NM_001127510.2:c.1240C>T NP_001120982.1:p.Arg414Cys
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 611731 OMIM
HGNC 583 HGNC
Ensembl ENSG00000134982 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6922916 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Primary malignant neoplasm of hypopharynx (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1991-08-09 no assertion criteria provided Gardner syndrome germline Detail
Benign Likely benign 2022-06-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Benign Likely benign 2020-10-12 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2024-02-06 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2023-02-18 reviewed by expert panel familial adenomatous polyposis 1 germline unknown Detail
Likely benign 2018-09-07 criteria provided, single submitter APC-Associated Polyposis Disorders germline Detail
Likely benign 2024-03-01 criteria provided, single submitter familial adenomatous polyposis 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.777 Adenomatous Polyposis Coli NA CLINVAR Detail
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.245 Gardner syndrome NA CLINVAR Detail
0.120 Polyposis, Adenomatous Intestinal NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) AND Gardner syndrome ClinVar Detail
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) AND not provided ClinVar Detail
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) AND not specified ClinVar Detail
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) AND APC-Associated Polyposis Disorders ClinVar Detail
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) AND Familial adenomatous polyposis 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs137854567 dbSNP
Genome
hg19
Position
chr5:112,154,969-112,154,969
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8572
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120892
Allele Counts in All Race (ExAC)
105
Heterozygous Counts in All Race (ExAC)
103
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
8.685438242398174E-4
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