chr5:112766412:T>A 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	chr5:112,102,109-112,102,109 View the variant detail on this assembly version.
hg38	chr5:112,766,412-112,766,412

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_001127511.2:c.250+2T>A
	NM_001127510.2:c.220+2T>A
	NM_000038.5:c.220+2T>A
Ensemble	ENST00000507379.6:c.250+2T>A
	ENST00000508376.6:c.220+2T>A
	ENST00000509732.6:c.220+2T>A
	ENST00000257430.9:c.220+2T>A
	ENST00000504915.3:c.220+2T>A
	ENST00000512211.7:c.220+2T>A
	ENST00000713638.1:c.220+2T>A
	ENST00000713639.1:c.43+2T>A

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2021-01-27	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-07-05	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic Likely pathogenic	2023-08-31	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2023-10-12	criteria provided, single submitter	familial adenomatous polyposis 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.220+2T>A AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.220+2T>A AND not provided	ClinVar	Detail
NM_000038.6(APC):c.220+2T>A AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.220+2T>A AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.220+2T>A AND Familial adenomatous polyposis 1	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587781809 dbSNP
Genome: hg38
Position: chr5:112,766,412-112,766,412
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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