chr5:112792494:C>T Detail (hg38) (APC)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr5:112,128,191-112,128,191 View the variant detail on this assembly version.
hg38	chr5:112,792,494-112,792,494

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.694C>T	NP_000029.2:p.Arg232Ter
	NM_001127511.2:c.676-8785C>T
	NM_001127510.2:c.694C>T	NP_001120982.1:p.Arg232Ter
Ensemble	ENST00000713639.1:c.517C>T	ENST00000713639.1:p.Arg173Ter
	ENST00000257430.9:c.694C>T	ENST00000257430.9:p.Arg232Ter
	ENST00000504915.3:c.694C>T	ENST00000504915.3:p.Arg232Ter
	ENST00000507379.6:c.676-8785C>T
	ENST00000508376.6:c.694C>T	ENST00000508376.6:p.Arg232Ter
	ENST00000509732.6:c.694C>T	ENST00000509732.6:p.Arg232Ter
	ENST00000512211.7:c.694C>T	ENST00000512211.7:p.Arg232Ter
	ENST00000713638.1:c.694C>T	ENST00000713638.1:p.Arg232Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	9
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

APC

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	COSM13130	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2023/03/13	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2023/03/13	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2023/03/13	adrenal gland	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2023/03/13	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2017/12/14	colon cancer	somatic	MGS000017 (TMGS000052)	Kohei Miyazono	Tokyo University
Pathogenic	2018/04/26	Rectal cancer	somatic	MGS000017 (TMGS000052)	Kohei Miyazono	Tokyo University
Pathogenic		colorectal neoplasms, hereditary nonpolyposis	somatic	MGS000043 (TMGS000096)	Kohei Miyazono	Tokyo University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-10-09	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2023-04-04	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-07-11	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Desmoid disease, hereditary,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Desmoid disease, hereditary,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Desmoid disease, hereditary,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Desmoid disease, hereditary,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,Desmoid disease, hereditary,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2016-11-01	criteria provided, multiple submitters, no conflicts	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail
Pathogenic	2024-01-03	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Uncertain significance	2024-03-29	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.777	Adenomatous Polyposis Coli	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND Familial adenomatous polyposis 1	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: rs397515734 dbSNP
Genome: hg38
Position: chr5:112,792,494-112,792,494
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser