chr5:112178000:C>T 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	chr5:112,178,000-112,178,000
hg38	chr5:112,842,303-112,842,303 View the variant detail on this assembly version.

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_000038.5:c.6709C>T	NP_000029.2:p.Arg2237Ter
	NM_001127510.2:c.6709C>T	NP_001120982.1:p.Arg2237Ter
	NM_001127511.2:c.6655C>T	NP_001120983.2:p.Arg2219Ter
Ensemble	ENST00000257430.9:c.6709C>T	ENST00000257430.9:p.Arg2237Ter
	ENST00000508376.6:c.6709C>T	ENST00000508376.6:p.Arg2237Ter
	ENST00000504915.3:c.6763C>T	ENST00000504915.3:p.Arg2255Ter
	ENST00000507379.6:c.6655C>T	ENST00000507379.6:p.Arg2219Ter
	ENST00000512211.7:c.6709C>T	ENST00000512211.7:p.Arg2237Ter
	ENST00000509732.6:c.6709C>T	ENST00000509732.6:p.Arg2237Ter
	ENST00000713638.1:c.*4691C>T
	ENST00000713639.1:c.6391C>T	ENST00000713639.1:p.Arg2131Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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	Pathogenic Likely pathogenic
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	COSM1059635	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		Carcinoma of breast (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-09-15	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-08-08	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-11-26	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	unknown	Detail
Pathogenic	2024-01-24	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 1	germline unknown	Detail
Pathogenic Likely pathogenic	2019-02-08	criteria provided, multiple submitters, no conflicts	Familial multiple polyposis syndrome	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) AND not provided	ClinVar	Detail
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) AND Familial adenomatous polyposis 1	ClinVar	Detail
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) AND Familial multiple polyposis syndrome	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: rs768922431 dbSNP
Genome: hg19
Position: chr5:112,178,000-112,178,000
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8646
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120556
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.294900295298451E-6

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