chr5:112164616:C>T Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,164,616-112,164,616
hg38 chr5:112,828,919-112,828,919 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.1690C>T NP_000029.2:p.Arg564Ter
NM_001127511.2:c.1636C>T NP_001120983.2:p.Arg546Ter
NM_001127510.2:c.1690C>T NP_001120982.1:p.Arg564Ter
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 10
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 COSM18848 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 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic Adenocarcinoma of sigmoid colon (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic Colorectal somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Pathogenic Carcinoma of colon (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
not provided colorectal cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-24 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 1 germline unknown Detail
Pathogenic 2021-10-28 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-12-20 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2019-11-06 criteria provided, multiple submitters, no conflicts Familial multiple polyposis syndrome germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 1 germline unknown Detail
Pathogenic 2023-11-08 criteria provided, single submitter Classic or attenuated familial adenomatous polyposis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Polyposis, Adenomatous Intestinal NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) AND not provided ClinVar Detail
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) AND Familial multiple polyposis syndrome ClinVar Detail
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) AND Classic or attenuated familial adenomatous polyposis 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
rs137854574 dbSNP
Genome
hg19
Position
chr5:112,164,616-112,164,616
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser