chr5:112815564:C>T 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	chr5:112,151,261-112,151,261 View the variant detail on this assembly version.
hg38	chr5:112,815,564-112,815,564

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.904C>T	NP_000029.2:p.Arg302Ter
	NM_001127511.2:c.850C>T	NP_001120983.2:p.Arg284Ter
	NM_001127510.2:c.904C>T	NP_001120982.1:p.Arg302Ter
Ensemble	ENST00000257430.9:c.904C>T	ENST00000257430.9:p.Arg302Ter
	ENST00000504915.3:c.904C>T	ENST00000504915.3:p.Arg302Ter
	ENST00000507379.6:c.850C>T	ENST00000507379.6:p.Arg284Ter
	ENST00000508376.6:c.904C>T	ENST00000508376.6:p.Arg302Ter
	ENST00000509732.6:c.904C>T	ENST00000509732.6:p.Arg302Ter
	ENST00000512211.7:c.904C>T	ENST00000512211.7:p.Arg302Ter
	ENST00000713638.1:c.904C>T	ENST00000713638.1:p.Arg302Ter
	ENST00000713639.1:c.727C>T	ENST00000713639.1:p.Arg243Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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	COSM13862	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-10-23	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2006-11-30	no assertion criteria provided	Gardner syndrome	germline	Detail
Pathogenic	2021-12-28	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-02-02	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2015-11-20	criteria provided, single submitter	Colorectal cancer, susceptibility to	germline	Detail
Pathogenic	2019-04-18	criteria provided, multiple submitters, no conflicts	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2023-04-27	criteria provided, single submitter	familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2023-11-28	criteria provided, single submitter	Classic or attenuated familial adenomatous polyposis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.245	Gardner syndrome	NA	CLINVAR		Detail
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Gardner syndrome	ClinVar	Detail
NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Colorectal cancer, susceptibility to	ClinVar	Detail
NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Classic or attenuated familial adenomatous polyposis	ClinVar	Detail
NA	DisGeNET	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: rs137854568 dbSNP
Genome: hg38
Position: chr5:112,815,564-112,815,564
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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