chr5:112775632:AT> 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	chr5:112,111,329-112,111,330
hg38	chr5:112,775,632-112,775,633

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.426_427delAT	NP_000029.2:p.Leu143AlafsTer4
	NM_001127511.2:c.456_457delAT	NP_001120983.2:p.Leu153AlafsTer4
	NM_001127510.2:c.426_427delAT	NP_001120982.1:p.Leu143AlafsTer4
Ensemble	ENST00000257430.9:c.426_427delAT	ENST00000257430.9:p.Leu143AlafsTer4
	ENST00000504915.3:c.426_427delAT	ENST00000504915.3:p.Leu143AlafsTer4
	ENST00000507379.6:c.456_457delAT	ENST00000507379.6:p.Leu153AlafsTer4
	ENST00000508376.6:c.426_427delAT	ENST00000508376.6:p.Leu143AlafsTer4
	ENST00000509732.6:c.426_427delAT	ENST00000509732.6:p.Leu143AlafsTer4
	ENST00000512211.7:c.426_427delAT	ENST00000512211.7:p.Leu143AlafsTer4
	ENST00000713638.1:c.426_427delAT	ENST00000713638.1:p.Leu143AlafsTer4
	ENST00000713639.1:c.249_250delAT	ENST00000713639.1:p.Leu84AlafsTer4

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM6856750	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2022/05/04	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2022/05/04	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-14	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2023-06-13	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-05-01	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2017-02-08	criteria provided, single submitter	not specified	germline	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2023-10-23	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
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.426_427del (p.Leu143fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.426_427del (p.Leu143fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.426_427del (p.Leu143fs) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.426_427del (p.Leu143fs) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.426_427del (p.Leu143fs) AND not specified	ClinVar	Detail
NM_000038.6(APC):c.426_427del (p.Leu143fs) AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.426_427del (p.Leu143fs) AND Classic or attenuated familial adenomatous polyposis	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: rs587782557 dbSNP
Genome: hg38
Position: chr5:112,775,632-112,775,633
Variant Type: snv
Reference Allele: AT
Alternative Allele: -

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