chr5:112174474:ACAAA> 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	chr5:112,174,474-112,174,478
hg38	chr5:112,838,777-112,838,781

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_001127510.2:c.3183_3187delACAAA	NP_001120982.1:p.Gln1062Ter
	NM_001127511.2:c.3129_3133delACAAA	NP_001120983.2:p.Gln1044Ter
	NM_000038.5:c.3183_3187delACAAA	NP_000029.2:p.Gln1062Ter
Ensemble	ENST00000508376.6:c.3183_3187delACAAA	ENST00000508376.6:p.Gln1062Ter
	ENST00000512211.7:c.3183_3187delACAAA	ENST00000512211.7:p.Gln1062Ter
	ENST00000507379.6:c.3129_3133delACAAA	ENST00000507379.6:p.Gln1044Ter
	ENST00000257430.9:c.3183_3187delACAAA	ENST00000257430.9:p.Gln1062Ter
	ENST00000504915.3:c.3237_3241delACAAA	ENST00000504915.3:p.Gln1080Ter
	ENST00000509732.6:c.3183_3187delACAAA	ENST00000509732.6:p.Gln1062Ter
	ENST00000713638.1:c.1165_1169delACAAA
	ENST00000713639.1:c.2865_2869delACAAA	ENST00000713639.1:p.Gln956Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	12
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	COSM23554	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2019/05/08	connective and other soft tissue	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2019/05/08	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/07/26	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2019/05/08	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/05/31	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2019/05/08	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/07/26	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/05/31	sigmoid colon	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/10/07	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/10/07	colon, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		familial adenomatous polyposis	somatic	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University
Pathogenic	2020/04/20	transverse colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-12-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-07-07	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic	2022-03-31	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-10-28	criteria provided, multiple submitters, no conflicts	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2016-02-29	criteria provided, single submitter	craniopharyngioma	germline	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2024-01-30	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail
Pathogenic	2023-06-15	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.3183_3187del (p.Lys1061_Gln1062insTer) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) AND Hereditary cancer-predisposing syndrom...	ClinVar	Detail
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) AND Craniopharyngioma	ClinVar	Detail
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) AND Carcinoma of colon	ClinVar	Detail
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) AND Classic or attenuated familial adenoma...	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: rs587779352 dbSNP
Genome: hg19
Position: chr5:112,174,474-112,174,478
Variant Type: snv
Reference Allele: ACAAA
Alternative Allele: -

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