chr5:112154921:AA> Detail (hg19) (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	chr5:112,154,921-112,154,922
hg38	chr5:112,819,224-112,819,225

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_001127510.2:c.1192_1193delAA	NP_001120982.1:p.Lys398GlufsTer5
	NM_000038.5:c.1192_1193delAA	NP_000029.2:p.Lys398GlufsTer5
	NM_001127511.2:c.1138_1139delAA	NP_001120983.2:p.Lys380GlufsTer5
Ensemble	ENST00000508376.6:c.1192_1193delAA	ENST00000508376.6:p.Lys398GlufsTer5
	ENST00000504915.3:c.1192_1193delAA	ENST00000504915.3:p.Lys398GlufsTer5
	ENST00000257430.9:c.1192_1193delAA	ENST00000257430.9:p.Lys398GlufsTer5
	ENST00000512211.7:c.1192_1193delAA	ENST00000512211.7:p.Lys398GlufsTer5
	ENST00000507379.6:c.1138_1139delAA	ENST00000507379.6:p.Lys380GlufsTer5
	ENST00000509732.6:c.1192_1193delAA	ENST00000509732.6:p.Lys398GlufsTer5
	ENST00000713638.1:c.1192_1193delAA	ENST00000713638.1:p.Lys398GlufsTer5
	ENST00000713639.1:c.874_875delAA	ENST00000713639.1:p.Lys292GlufsTer5

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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	COSM5990139	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-28	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2019-08-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-02-10	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-02-02	criteria provided, single submitter	familial adenomatous polyposis 1	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.1192_1193del (p.Lys398fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) 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: rs387906238 dbSNP
Genome: hg19
Position: chr5:112,154,921-112,154,922
Variant Type: snv
Reference Allele: AA
Alternative Allele: -

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