chr5:112116592:C>T Detail (hg19) (APC)

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

Information

Genome

Assembly	Position
hg19	chr5:112,116,592-112,116,592
hg38	chr5:112,780,895-112,780,895 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_001127511.2:c.667C>T	NP_001120983.2:p.Arg223Ter
	NM_001127510.2:c.637C>T	NP_001120982.1:p.Arg213Ter
	NM_000038.5:c.637C>T	NP_000029.2:p.Arg213Ter
Ensemble	ENST00000507379.6:c.667C>T	ENST00000507379.6:p.Arg223Ter
	ENST00000508376.6:c.637C>T	ENST00000508376.6:p.Arg213Ter
	ENST00000257430.9:c.637C>T	ENST00000257430.9:p.Arg213Ter
	ENST00000512211.7:c.637C>T	ENST00000512211.7:p.Arg213Ter
	ENST00000504915.3:c.637C>T	ENST00000504915.3:p.Arg213Ter
	ENST00000509732.6:c.637C>T	ENST00000509732.6:p.Arg213Ter
	ENST00000713638.1:c.637C>T	ENST00000713638.1:p.Arg213Ter
	ENST00000713639.1:c.460C>T	ENST00000713639.1:p.Arg154Ter

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic not provided
Variant entry	36
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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	COSM13134	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		caecum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		colon, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectosigmoid junction	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/07/17	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic		other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/07/17	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/06/14	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/10/20	duodenum	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/07/17	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/06/14	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/10/20	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/10/20	malignant neoplasm of rectum	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/10/20	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Adenocarcinoma of sigmoid colon (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University
Pathogenic		Carcinoma of colon (disorder)	unknown	MGS000025 (TMGS000084)	Manabu Muto	Kyoto University
not provided		colorectal cancer	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
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	2021-12-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2021-09-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of colon,familial adenomatous polyposis 1,Neoplasm of stomach,hepatocellular carcinoma,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-04-17	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2023-04-27	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2023-11-30	criteria provided, single submitter	familial adenomatous polyposis 1	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.637C>T (p.Arg213Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.637C>T (p.Arg213Ter) 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: rs587781392 dbSNP
Genome: hg19
Position: chr5:112,116,592-112,116,592
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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