chr5:112839408:T> 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	chr5:112,175,105-112,175,105
hg38	chr5:112,839,408-112,839,408

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.3814delT	NP_000029.2:p.Ser1272GlnfsTer16
	NM_001127511.2:c.3760delT	NP_001120983.2:p.Ser1254GlnfsTer16
	NM_001127510.2:c.3814delT	NP_001120982.1:p.Ser1272GlnfsTer16
Ensemble	ENST00000257430.9:c.3814delT	ENST00000257430.9:p.Ser1272GlnfsTer16
	ENST00000504915.3:c.3868delT	ENST00000504915.3:p.Ser1290GlnfsTer16
	ENST00000507379.6:c.3760delT	ENST00000507379.6:p.Ser1254GlnfsTer16
	ENST00000508376.6:c.3814delT	ENST00000508376.6:p.Ser1272GlnfsTer16
	ENST00000509732.6:c.3814delT	ENST00000509732.6:p.Ser1272GlnfsTer16
	ENST00000512211.7:c.3814delT	ENST00000512211.7:p.Ser1272GlnfsTer16
	ENST00000713638.1:c.*1796delT
	ENST00000713639.1:c.3496delT	ENST00000713639.1:p.Ser1166GlnfsTer16

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM19262	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		colorectal neoplasms, hereditary nonpolyposis	somatic	MGS000043 (TMGS000096)	Kohei Miyazono	Tokyo University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-07-24	no assertion criteria provided	familial adenomatous polyposis 1	germline	Detail
Pathogenic	2020-11-04	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-09-05	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Likely pathogenic	2024-01-18	criteria provided, single submitter	Classic or attenuated familial adenomatous polyposis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Polyposis, Adenomatous Intestinal	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.3814del (p.Ser1272fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3814del (p.Ser1272fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.3814del (p.Ser1272fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3814del (p.Ser1272fs) AND Classic or attenuated familial adenomatous polyposis	ClinVar	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: rs587783033 dbSNP
Genome: hg38
Position: chr5:112,839,408-112,839,408
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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