chr5:112838743:C> 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	chr5:112,174,440-112,174,440
hg38	chr5:112,838,743-112,838,743

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.3149delC	NP_000029.2:p.Ala1050GlufsTer6
	NM_001127511.2:c.3095delC	NP_001120983.2:p.Ala1032GlufsTer6
	NM_001127510.2:c.3149delC	NP_001120982.1:p.Ala1050GlufsTer6
Ensemble	ENST00000257430.9:c.3149delC	ENST00000257430.9:p.Ala1050GlufsTer6
	ENST00000504915.3:c.3203delC	ENST00000504915.3:p.Ala1068GlufsTer6
	ENST00000507379.6:c.3095delC	ENST00000507379.6:p.Ala1032GlufsTer6
	ENST00000508376.6:c.3149delC	ENST00000508376.6:p.Ala1050GlufsTer6
	ENST00000509732.6:c.3149delC	ENST00000509732.6:p.Ala1050GlufsTer6
	ENST00000512211.7:c.3149delC	ENST00000512211.7:p.Ala1050GlufsTer6
	ENST00000713638.1:c.*1131delC
	ENST00000713639.1:c.2831delC	ENST00000713639.1:p.Ala944GlufsTer6

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-02-17	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2023-04-24	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-07-20	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-09-03	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer,Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer,Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer,Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer,Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer,Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary	germline	Detail
Pathogenic	2021-03-30	criteria provided, single submitter	Gastric adenocarcinoma and proximal polyposis of the stomach,familial adenomatous polyposis 1,colorectal cancer,Gastric cancer,hepatocellular carcinoma,Desmoid disease, hereditary	germline	Detail
Pathogenic	2023-07-19	criteria provided, multiple submitters, no conflicts	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2023-11-22	criteria provided, single submitter	APC-related disorder	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.3149del (p.Ala1050fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.3149del (p.Ala1050fs) AND APC-related disorder	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: rs730882135 dbSNP
Genome: hg38
Position: chr5:112,838,743-112,838,743
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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