chr5:112179153:C>G Detail (hg19) (APC)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr5:112,179,153-112,179,153
hg38	chr5:112,843,456-112,843,456 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.7862C>G	NP_000029.2:p.Ser2621Cys
	NM_001127511.2:c.7808C>G	NP_001120983.2:p.Ser2603Cys
	NM_001127510.2:c.7862C>G	NP_001120982.1:p.Ser2621Cys
Ensemble	ENST00000257430.9:c.7862C>G	ENST00000257430.9:p.Ser2621Cys
	ENST00000504915.3:c.7916C>G	ENST00000504915.3:p.Ser2639Cys
	ENST00000507379.6:c.7808C>G	ENST00000507379.6:p.Ser2603Cys
	ENST00000508376.6:c.7862C>G	ENST00000508376.6:p.Ser2621Cys
	ENST00000509732.6:c.7862C>G	ENST00000509732.6:p.Ser2621Cys
	ENST00000512211.7:c.7862C>G	ENST00000512211.7:p.Ser2621Cys
	ENST00000713638.1:c.*5844C>G
	ENST00000713639.1:c.7544C>G	ENST00000713639.1:p.Ser2515Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Benign
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2024-02-06	criteria provided, multiple submitters, no conflicts	not specified	germline unknown	Detail
Benign	2022-08-04	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign	2018-03-06	criteria provided, single submitter	APC-Associated Polyposis Disorders	germline	Detail
Benign	2023-02-26	reviewed by expert panel	familial adenomatous polyposis 1	germline unknown	Detail
Benign		no assertion criteria provided	Carcinoma of colon	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.777	Adenomatous Polyposis Coli	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) AND not specified	ClinVar	Detail
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) AND APC-Associated Polyposis Disorders	ClinVar	Detail
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) AND Carcinoma of colon	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: rs72541816 dbSNP
Genome: hg19
Position: chr5:112,179,153-112,179,153
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 120830
Allele Counts in All Race (ExAC): 379
Heterozygous Counts in All Race (ExAC): 375
Homozygous Counts in All Race (ExAC): 2
Allele Frequency in All Race (ExAC): 0.003136638252089713

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