chr5:112116598:C>T Detail (hg19) (APC)

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

Information

Genome

Assembly	Position
hg19	chr5:112,116,598-112,116,598
hg38	chr5:112,780,901-112,780,901 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.643C>T	NP_000029.2:p.Gln215Ter
	NM_001127511.2:c.673C>T	NP_001120983.2:p.Gln225Ter
	NM_001127510.2:c.643C>T	NP_001120982.1:p.Gln215Ter
Ensemble	ENST00000257430.9:c.643C>T	ENST00000257430.9:p.Gln215Ter
	ENST00000504915.3:c.643C>T	ENST00000504915.3:p.Gln215Ter
	ENST00000507379.6:c.673C>T	ENST00000507379.6:p.Gln225Ter
	ENST00000508376.6:c.643C>T	ENST00000508376.6:p.Gln215Ter
	ENST00000509732.6:c.643C>T	ENST00000509732.6:p.Gln215Ter
	ENST00000512211.7:c.643C>T	ENST00000512211.7:p.Gln215Ter
	ENST00000713638.1:c.643C>T	ENST00000713638.1:p.Gln215Ter
	ENST00000713639.1:c.466C>T	ENST00000713639.1:p.Gln156Ter

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	COSM1183185	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-27	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	1995-03-30	no assertion criteria provided	Brain tumor-polyposis syndrome 2	germline	Detail
Pathogenic	2016-11-14	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2016-11-15	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2016-09-15	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2021-08-19	criteria provided, multiple submitters, no conflicts	Gastric cancer,Gastric adenocarcinoma and proximal polyposis of the stomach,Desmoid disease, hereditary,colorectal cancer,familial adenomatous polyposis 1,hepatocellular carcinoma	germline unknown	Detail
Pathogenic	2021-08-19	criteria provided, multiple submitters, no conflicts	Gastric cancer,Gastric adenocarcinoma and proximal polyposis of the stomach,Desmoid disease, hereditary,colorectal cancer,familial adenomatous polyposis 1,hepatocellular carcinoma	unknown germline	Detail
Pathogenic	2021-08-19	criteria provided, multiple submitters, no conflicts	Gastric cancer,Gastric adenocarcinoma and proximal polyposis of the stomach,Desmoid disease, hereditary,colorectal cancer,familial adenomatous polyposis 1,hepatocellular carcinoma	germline unknown	Detail
Pathogenic	2021-08-19	criteria provided, multiple submitters, no conflicts	Gastric cancer,Gastric adenocarcinoma and proximal polyposis of the stomach,Desmoid disease, hereditary,colorectal cancer,familial adenomatous polyposis 1,hepatocellular carcinoma	germline unknown	Detail
Pathogenic	2021-08-19	criteria provided, multiple submitters, no conflicts	Gastric cancer,Gastric adenocarcinoma and proximal polyposis of the stomach,Desmoid disease, hereditary,colorectal cancer,familial adenomatous polyposis 1,hepatocellular carcinoma	unknown germline	Detail
Pathogenic	2021-08-19	criteria provided, multiple submitters, no conflicts	Gastric cancer,Gastric adenocarcinoma and proximal polyposis of the stomach,Desmoid disease, hereditary,colorectal cancer,familial adenomatous polyposis 1,hepatocellular carcinoma	germline unknown	Detail
Pathogenic	2024-01-21	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
0.120	BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND Brain tumor-polyposis syndrome 2	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND not specified	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND multiple conditions	ClinVar	Detail
NM_000038.6(APC):c.643C>T (p.Gln215Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NA	DisGeNET	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: rs137854577 dbSNP
Genome: hg19
Position: chr5:112,116,598-112,116,598
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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