chr1:45797374:G> Detail (hg19) (MUTYH)

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

Information

Genome

Assembly	Position
hg19	chr1:45,797,374-45,797,374
hg38	chr1:45,331,702-45,331,702

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048174.1:c.1061delC	NP_001041639.1:p.Ala357ProfsTer23
	NM_001293191.1:c.1061delC	NP_001280120.1:p.Ala357ProfsTer23
	NM_001048171.1:c.1103delC	NP_001041636.1:p.Ala371ProfsTer23
	NM_001293190.1:c.1103delC	NP_001280119.1:p.Ala371ProfsTer23
	NM_001293192.1:c.1103delC	NP_001280121.1:p.Ala371ProfsTer23
	NM_012222.2:c.1103delC	NP_036354.1:p.Ala371ProfsTer23
	NM_001048172.1:c.1061delC	NP_001041637.1:p.Ala357ProfsTer23
	NM_001048173.1:c.1061delC	NP_001041638.1:p.Ala357ProfsTer23
	NM_001293196.1:c.1061delC	NP_001280125.1:p.Ala357ProfsTer23
	NM_001293195.1:c.1061delC	NP_001280124.1:p.Ala357ProfsTer23
Ensemble	ENST00000713751.1:c.1082delC	ENST00000713751.1:p.Ala364ProfsTer23
	ENST00000488731.6:c.188-146delC
	ENST00000672314.2:c.1061delC	ENST00000672314.2:p.Ala357ProfsTer23
	ENST00000483127.2:c.1079delC	ENST00000483127.2:p.Ala363ProfsTer23
	ENST00000456914.7:c.1061delC	ENST00000456914.7:p.Ala357ProfsTer23
	ENST00000354383.10:c.1064delC	ENST00000354383.10:p.Ala358ProfsTer23
	ENST00000529984.5:c.188-146delC
	ENST00000372115.7:c.1103delC	ENST00000372115.7:p.Ala371ProfsTer23
	ENST00000355498.6:c.1061delC	ENST00000355498.6:p.Ala357ProfsTer23
	ENST00000372104.5:c.1061delC	ENST00000372104.5:p.Ala357ProfsTer23
	ENST00000528013.6:c.1103delC	ENST00000528013.6:p.Ala371ProfsTer23
	ENST00000412971.6:c.677delC	ENST00000412971.6:p.Ala229ProfsTer23
	ENST00000710952.2:c.1145delC	ENST00000710952.2:p.Ala385ProfsTer23
	ENST00000372110.7:c.1106delC	ENST00000372110.7:p.Ala372ProfsTer23
	ENST00000713750.1:c.1061delC	ENST00000713750.1:p.Ala357ProfsTer23
	ENST00000672818.3:c.1136delC	ENST00000672818.3:p.Ala382ProfsTer23
	ENST00000531105.5:c.116-2265delC
	ENST00000529892.6:c.956-146delC
	ENST00000448481.5:c.1094delC	ENST00000448481.5:p.Ala368ProfsTer23
	ENST00000372098.7:c.1136delC	ENST00000372098.7:p.Ala382ProfsTer23

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	Pathogenic Likely pathogenic
Review star
Show details

Links

MUTYH

Type	Database	ID	Link
Gene	MIM	604933	OMIM
	HGNC	7527	HGNC
	Ensembl	ENSG00000132781	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
not provided	2013-09-19	no assertion provided	not specified	germline	Detail
Pathogenic	2014-07-24	no assertion criteria provided	Carcinoma of colon	germline unknown	Detail
Pathogenic	2023-04-03	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-18	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail
Pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2017-12-18	criteria provided, single submitter	Familial colorectal cancer	inherited	Detail
Pathogenic	2023-10-09	criteria provided, single submitter	MUTYH-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR	Detail
0.480	Colorectal Adenomatous Polyposis, Autosomal Recessive	NA	CLINVAR	Detail
0.122	colon carcinoma	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) AND not specified	ClinVar	Detail
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) AND Carcinoma of colon	ClinVar	Detail
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) AND Familial colorectal cancer	ClinVar	Detail
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) AND MUTYH-related disorder	ClinVar	Detail
NA	DisGeNET	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: rs587778536 dbSNP
Genome: hg19
Position: chr1:45,797,374-45,797,374
Variant Type: snv
Reference Allele: G
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8600
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): 119682
Allele Counts in All Race (ExAC): 9
Heterozygous Counts in All Race (ExAC): 9
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.519927808693036E-5

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