chr5:112827194:C>T Detail (hg38) (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	chr5:112,162,891-112,162,891 View the variant detail on this assembly version.
hg38	chr5:112,827,194-112,827,194

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.1495C>T	NP_000029.2:p.Arg499Ter
	NM_001127511.2:c.1441C>T	NP_001120983.2:p.Arg481Ter
	NM_001127510.2:c.1495C>T	NP_001120982.1:p.Arg499Ter
Ensemble	ENST00000257430.9:c.1495C>T	ENST00000257430.9:p.Arg499Ter
	ENST00000507379.6:c.1441C>T	ENST00000507379.6:p.Arg481Ter
	ENST00000508376.6:c.1495C>T	ENST00000508376.6:p.Arg499Ter
	ENST00000504915.3:c.1549C>T	ENST00000504915.3:p.Arg517Ter
	ENST00000509732.6:c.1495C>T	ENST00000509732.6:p.Arg499Ter
	ENST00000512211.7:c.1495C>T	ENST00000512211.7:p.Arg499Ter
	ENST00000713638.1:c.1495C>T	ENST00000713638.1:p.Arg499Ter
	ENST00000713639.1:c.1177C>T	ENST00000713639.1:p.Arg393Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	4
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	COSM29364	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/05/28	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/05/28	liver, gallbladder and bile ducts	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/05/28	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/05/28	duodenum	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-11-01	no assertion criteria provided	Gardner syndrome	germline	Detail
Pathogenic	2023-04-05	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	somatic unknown	Detail
Pathogenic	2022-05-03	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-07-31	criteria provided, multiple submitters, no conflicts	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2022-02-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2024-01-28	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
not provided		no assertion provided	APC-Associated Polyposis Disorders	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.245	Gardner syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) AND Gardner syndrome	ClinVar	Detail
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) AND APC-Associated Polyposis Disorders	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: rs137854580 dbSNP
Genome: hg38
Position: chr5:112,827,194-112,827,194
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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