chr5:112841530:ACAA> 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	chr5:112,177,227-112,177,230
hg38	chr5:112,841,530-112,841,533

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.5936_5939delACAA	NP_000029.2:p.Asn1979ThrfsTer64
	NM_001127511.2:c.5882_5885delACAA	NP_001120983.2:p.Asn1961ThrfsTer64
	NM_001127510.2:c.5936_5939delACAA	NP_001120982.1:p.Asn1979ThrfsTer64
Ensemble	ENST00000257430.9:c.5936_5939delACAA	ENST00000257430.9:p.Asn1979ThrfsTer64
	ENST00000504915.3:c.5990_5993delACAA	ENST00000504915.3:p.Asn1997ThrfsTer64
	ENST00000507379.6:c.5882_5885delACAA	ENST00000507379.6:p.Asn1961ThrfsTer64
	ENST00000508376.6:c.5936_5939delACAA	ENST00000508376.6:p.Asn1979ThrfsTer64
	ENST00000509732.6:c.5936_5939delACAA	ENST00000509732.6:p.Asn1979ThrfsTer64
	ENST00000512211.7:c.5936_5939delACAA	ENST00000512211.7:p.Asn1979ThrfsTer64
	ENST00000713638.1:c.3918_3921delACAA
	ENST00000713639.1:c.5618_5621delACAA	ENST00000713639.1:p.Asn1873ThrfsTer64

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2012-12-19	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-07-12	criteria provided, single submitter	not provided	germline unknown	Detail
Pathogenic	2018-04-06	criteria provided, single submitter	Familial multiple polyposis syndrome	germline	Detail
Pathogenic	2023-05-15	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2023-10-27	criteria provided, single submitter	familial adenomatous polyposis 1	germline	Detail
Pathogenic	2024-02-01	criteria provided, single submitter	APC-related disorder	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.5936_5939del (p.Asn1979fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) AND Familial multiple polyposis syndrome	ClinVar	Detail
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) AND APC-related disorder	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: rs587781330 dbSNP
Genome: hg38
Position: chr5:112,841,530-112,841,533
Variant Type: snv
Reference Allele: ACAA
Alternative Allele: -

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