chr5:112173917: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	chr5:112,173,917-112,173,917
hg38	chr5:112,838,220-112,838,220 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_001127511.2:c.2572C>T	NP_001120983.2:p.Arg858Ter
	NM_000038.5:c.2626C>T	NP_000029.2:p.Arg876Ter
	NM_001127510.2:c.2626C>T	NP_001120982.1:p.Arg876Ter
Ensemble	ENST00000507379.6:c.2572C>T	ENST00000507379.6:p.Arg858Ter
	ENST00000512211.7:c.2626C>T	ENST00000512211.7:p.Arg876Ter
	ENST00000257430.9:c.2626C>T	ENST00000257430.9:p.Arg876Ter
	ENST00000508376.6:c.2626C>T	ENST00000508376.6:p.Arg876Ter
	ENST00000504915.3:c.2680C>T	ENST00000504915.3:p.Arg894Ter
	ENST00000509732.6:c.2626C>T	ENST00000509732.6:p.Arg876Ter
	ENST00000713638.1:c.*608C>T
	ENST00000713639.1:c.2308C>T	ENST00000713639.1:p.Arg770Ter

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	48
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	COSM18852	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	small intestine, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	caecum	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	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	2018/08/30	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/08/30	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Primary adenocarcinoma of colon (disorder)	unknown	MGS000023 (TMGS000082)	Manabu Muto	Kyoto University
Pathogenic		Carcinoma of colon (disorder)	unknown	MGS000025 (TMGS000084)	Manabu Muto	Kyoto University
not provided		Hepatocellular carcinoma	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
Pathogenic	2020/04/20	other	somatic	MGS000039 (TMGS000092)	Hitoshi Nakagama	National Cancer Center Japan	29659903
Pathogenic	2020/04/20	stomach cancer	somatic	MGS000039 (TMGS000092)	Hitoshi Nakagama	National Cancer Center Japan	29659903

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-03-31	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Pathogenic	2022-09-22	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2018-09-07	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2023-11-08	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2021-09-07	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) AND not specified	ClinVar	Detail
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) 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: rs121913333 dbSNP
Genome: hg19
Position: chr5:112,173,917-112,173,917
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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