chr1:45798475:T>C 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	chr1:45,798,475-45,798,475
hg38	chr1:45,332,803-45,332,803 View the variant detail on this assembly version.

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001293195.1:c.452A>G	NP_001280124.1:p.Tyr151Cys
	NM_001048172.1:c.452A>G	NP_001041637.1:p.Tyr151Cys
	NM_001048173.1:c.452A>G	NP_001041638.1:p.Tyr151Cys
	NM_001293196.1:c.452A>G	NP_001280125.1:p.Tyr151Cys
	NM_001048171.1:c.494A>G	NP_001041636.1:p.Tyr165Cys
	NM_001293190.1:c.494A>G	NP_001280119.1:p.Tyr165Cys
	NM_001293192.1:c.494A>G	NP_001280121.1:p.Tyr165Cys
	NM_012222.2:c.494A>G	NP_036354.1:p.Tyr165Cys
	NM_001048174.1:c.452A>G	NP_001041639.1:p.Tyr151Cys
	NM_001293191.1:c.452A>G	NP_001280120.1:p.Tyr151Cys
Ensemble	ENST00000372098.7:c.527A>G	ENST00000372098.7:p.Tyr176Cys
	ENST00000448481.5:c.485A>G	ENST00000448481.5:p.Tyr162Cys
	ENST00000529892.6:c.494A>G	ENST00000529892.6:p.Tyr165Cys
	ENST00000531105.5:c.115+1588A>G
	ENST00000672818.3:c.527A>G	ENST00000672818.3:p.Tyr176Cys
	ENST00000713750.1:c.452A>G	ENST00000713750.1:p.Tyr151Cys
	ENST00000372110.7:c.497A>G	ENST00000372110.7:p.Tyr166Cys
	ENST00000710952.2:c.536A>G	ENST00000710952.2:p.Tyr179Cys
	ENST00000528013.6:c.494A>G	ENST00000528013.6:p.Tyr165Cys
	ENST00000412971.6:c.68A>G	ENST00000412971.6:p.Tyr23Cys
	ENST00000372104.5:c.452A>G	ENST00000372104.5:p.Tyr151Cys
	ENST00000355498.6:c.452A>G	ENST00000355498.6:p.Tyr151Cys
	ENST00000372115.7:c.494A>G	ENST00000372115.7:p.Tyr165Cys
	ENST00000529984.5:c.147A>G	ENST00000529984.5:p.Leu49=
	ENST00000456914.7:c.452A>G	ENST00000456914.7:p.Tyr151Cys
	ENST00000354383.10:c.455A>G	ENST00000354383.10:p.Tyr152Cys
	ENST00000672314.2:c.452A>G	ENST00000672314.2:p.Tyr151Cys
	ENST00000483127.2:c.470A>G	ENST00000483127.2:p.Tyr157Cys
	ENST00000488731.6:c.147A>G	ENST00000488731.6:p.Leu49=
	ENST00000713751.1:c.473A>G	ENST00000713751.1:p.Tyr158Cys

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
Pathogenic Likely pathogenic	2024-02-05	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline maternal unknown	Detail
Pathogenic	2007-12-01	no assertion criteria provided	endometrial carcinoma	unknown	Detail
Pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic Likely pathogenic	2024-03-05	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
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
Likely pathogenic	2021-08-07	no assertion criteria provided	Gastric cancer	germline	Detail
Pathogenic	2022-03-15	criteria provided, single submitter	familial adenomatous polyposis 2,Gastric cancer	unknown	Detail
Pathogenic	2022-03-15	criteria provided, single submitter	familial adenomatous polyposis 2,Gastric cancer	unknown	Detail
Pathogenic	2023-11-07	criteria provided, single submitter	MUTYH-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	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
0.121	endometrial carcinoma	NA	CLINVAR		Detail
0.480	Colorectal Adenomatous Polyposis, Autosomal Recessive	Inherited variants of MYH associated with somatic G:C-->T:A mutations in colo...	UNIPROT	11818965	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND Endometrial carcinoma	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND not specified	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND Carcinoma of colon	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND Gastric cancer	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND multiple conditions	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND multiple conditions	ClinVar	Detail
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) AND MUTYH-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.	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: rs34612342 dbSNP
Genome: hg19
Position: chr1:45,798,475-45,798,475
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
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): 121382
Allele Counts in All Race (ExAC): 197
Heterozygous Counts in All Race (ExAC): 197
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.0016229753999769322

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