chr5:112154723:C>T Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,154,723-112,154,723
hg38 chr5:112,819,026-112,819,026 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127511.2:c.940C>T NP_001120983.2:p.Arg314Ter
NM_000038.5:c.994C>T NP_000029.2:p.Arg332Ter
NM_001127510.2:c.994C>T NP_001120982.1:p.Arg332Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 12
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 COSM19239 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/12/05 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/12/05 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/10/07 other germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/12/05 other germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/05/10 other germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/05/10 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-12-22 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2020-04-02 criteria provided, single submitter familial adenomatous polyposis 1 germline Detail
Pathogenic 2018-04-18 criteria provided, single submitter Familial multiple polyposis syndrome germline Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 1 germline unknown Detail
Pathogenic 2022-01-04 criteria provided, single submitter Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary,Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer unknown Detail
Pathogenic 2022-01-04 criteria provided, single submitter Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary,Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer unknown Detail
Pathogenic 2022-01-04 criteria provided, single submitter Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary,Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer unknown Detail
Pathogenic 2022-01-04 criteria provided, single submitter Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary,Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer unknown Detail
Pathogenic 2022-01-04 criteria provided, single submitter Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary,Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer unknown Detail
Pathogenic 2022-01-04 criteria provided, single submitter Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary,Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND not provided ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND Familial multiple polyposis syndrome ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND multiple conditions ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND multiple conditions ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND multiple conditions ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND multiple conditions ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND multiple conditions ClinVar Detail
NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND multiple conditions ClinVar 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
rs775126020 dbSNP
Genome
hg19
Position
chr5:112,154,723-112,154,723
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser