chr5:112128143:C>T Detail (hg19) (APC)

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

Genome

Assembly	Position
hg19	chr5:112,128,143-112,128,143
hg38	chr5:112,792,446-112,792,446 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.646C>T	NP_000029.2:p.Arg216Ter
	NM_001127511.2:c.676-8833C>T
	NM_001127510.2:c.646C>T	NP_001120982.1:p.Arg216Ter
Ensemble	ENST00000257430.9:c.646C>T	ENST00000257430.9:p.Arg216Ter
	ENST00000504915.3:c.646C>T	ENST00000504915.3:p.Arg216Ter
	ENST00000507379.6:c.676-8833C>T
	ENST00000508376.6:c.646C>T	ENST00000508376.6:p.Arg216Ter
	ENST00000509732.6:c.646C>T	ENST00000509732.6:p.Arg216Ter
	ENST00000512211.7:c.646C>T	ENST00000512211.7:p.Arg216Ter
	ENST00000713638.1:c.646C>T	ENST00000713638.1:p.Arg216Ter
	ENST00000713639.1:c.469C>T	ENST00000713639.1:p.Arg157Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	35
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM98420	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	lower third of oesophagus	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	transverse colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	sigmoid 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	2020/04/20	malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-11-29	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-01-21	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Desmoid disease, hereditary,Carcinoma of colon,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Desmoid disease, hereditary,Carcinoma of colon,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Desmoid disease, hereditary,Carcinoma of colon,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Desmoid disease, hereditary,Carcinoma of colon,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Desmoid disease, hereditary,Carcinoma of colon,Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2023-04-27	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2022-07-18	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2023-11-24	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2023-05-31	criteria provided, single submitter	Classic or attenuated familial adenomatous polyposis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.646C>T (p.Arg216Ter) 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: rs62619935 dbSNP
Genome: hg19
Position: chr5:112,128,143-112,128,143
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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