chr5:112838399:C>A Detail (hg38) (APC)

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

Information

Genome

Assembly	Position
hg19	chr5:112,174,096-112,174,096 View the variant detail on this assembly version.
hg38	chr5:112,838,399-112,838,399

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_001127511.2:c.2751C>A	NP_001120983.2:p.Tyr917Ter
	NM_001127510.2:c.2805C>A	NP_001120982.1:p.Tyr935Ter
	NM_000038.5:c.2805C>A	NP_000029.2:p.Tyr935Ter
Ensemble	ENST00000509732.6:c.2805C>A	ENST00000509732.6:p.Tyr935Ter
	ENST00000507379.6:c.2751C>A	ENST00000507379.6:p.Tyr917Ter
	ENST00000508376.6:c.2805C>A	ENST00000508376.6:p.Tyr935Ter
	ENST00000257430.9:c.2805C>A	ENST00000257430.9:p.Tyr935Ter
	ENST00000504915.3:c.2859C>A	ENST00000504915.3:p.Tyr953Ter
	ENST00000512211.7:c.2805C>A	ENST00000512211.7:p.Tyr935Ter
	ENST00000713638.1:c.*787C>A
	ENST00000713639.1:c.2487C>A	ENST00000713639.1:p.Tyr829Ter

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	COSM19031	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-03-29	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2022-07-24	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-07-11	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2015-11-20	criteria provided, single submitter	Colorectal cancer, susceptibility to	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1,Carcinoma of colon,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1,Carcinoma of colon,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1,Carcinoma of colon,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1,Carcinoma of colon,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Neoplasm of stomach,hepatocellular carcinoma,familial adenomatous polyposis 1,Carcinoma of colon,Desmoid disease, hereditary	unknown	Detail
Pathogenic	2014-01-27	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2024-01-03	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.777	Adenomatous Polyposis Coli	NA	CLINVAR		Detail
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail
0.777	Adenomatous Polyposis Coli	We identified a mutation in the APC gene that results in a truncated protein (Y9...	BeFree	16292097	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND Colorectal cancer, susceptibility to	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP prob...	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: rs137854575 dbSNP
Genome: hg38
Position: chr5:112,838,399-112,838,399
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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