chr5:112839942: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	chr5:112,175,639-112,175,639 View the variant detail on this assembly version.
hg38	chr5:112,839,942-112,839,942

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.4348C>T	NP_000029.2:p.Arg1450Ter
	NM_001127511.2:c.4294C>T	NP_001120983.2:p.Arg1432Ter
	NM_001127510.2:c.4348C>T	NP_001120982.1:p.Arg1450Ter
Ensemble	ENST00000504915.3:c.4402C>T	ENST00000504915.3:p.Arg1468Ter
	ENST00000257430.9:c.4348C>T	ENST00000257430.9:p.Arg1450Ter
	ENST00000507379.6:c.4294C>T	ENST00000507379.6:p.Arg1432Ter
	ENST00000508376.6:c.4348C>T	ENST00000508376.6:p.Arg1450Ter
	ENST00000509732.6:c.4348C>T	ENST00000509732.6:p.Arg1450Ter
	ENST00000512211.7:c.4348C>T	ENST00000512211.7:p.Arg1450Ter
	ENST00000713638.1:c.*2330C>T
	ENST00000713639.1:c.4030C>T	ENST00000713639.1:p.Arg1344Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
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	COSM13127	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2022/06/20	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		colorectal neoplasms, hereditary nonpolyposis	somatic	MGS000043 (TMGS000096)	Kohei Miyazono	Tokyo University
Pathogenic		familial adenomatous polyposis	somatic	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-07-07	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline somatic unknown	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-03-29	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2016-11-01	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail
not provided		no assertion provided	APC-Associated Polyposis Disorders	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.4348C>T (p.Arg1450Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND Neoplasm of the large intestine	ClinVar	Detail
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) 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: rs121913332 dbSNP
Genome: hg38
Position: chr5:112,839,942-112,839,942
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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