chr1:45332445:C>T Detail (hg38) (MUTYH)

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

Genome

Assembly	Position
hg19	chr1:45,798,117-45,798,117 View the variant detail on this assembly version.
hg38	chr1:45,332,445-45,332,445

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.650G>A	NP_001041637.1:p.Arg217His
	NM_001048173.1:c.650G>A	NP_001041638.1:p.Arg217His
	NM_001293196.1:c.650G>A	NP_001280125.1:p.Arg217His
	NM_001293195.1:c.650G>A	NP_001280124.1:p.Arg217His
	NM_001048171.1:c.692G>A	NP_001041636.1:p.Arg231His
	NM_001293190.1:c.692G>A	NP_001280119.1:p.Arg231His
	NM_001293192.1:c.692G>A	NP_001280121.1:p.Arg231His
	NM_012222.2:c.692G>A	NP_036354.1:p.Arg231His
	NM_001048174.1:c.650G>A	NP_001041639.1:p.Arg217His
	NM_001293191.1:c.650G>A	NP_001280120.1:p.Arg217His
Ensemble	ENST00000354383.10:c.653G>A	ENST00000354383.10:p.Arg218His
	ENST00000355498.6:c.650G>A	ENST00000355498.6:p.Arg217His
	ENST00000372098.7:c.725G>A	ENST00000372098.7:p.Arg242His
	ENST00000372104.5:c.650G>A	ENST00000372104.5:p.Arg217His
	ENST00000372110.7:c.695G>A	ENST00000372110.7:p.Arg232His
	ENST00000372115.7:c.692G>A	ENST00000372115.7:p.Arg231His
	ENST00000412971.6:c.266G>A	ENST00000412971.6:p.Arg89His
	ENST00000448481.5:c.683G>A	ENST00000448481.5:p.Arg228His
	ENST00000456914.7:c.650G>A	ENST00000456914.7:p.Arg217His
	ENST00000483127.2:c.668G>A	ENST00000483127.2:p.Arg223His
	ENST00000488731.6:c.187+318G>A
	ENST00000528013.6:c.692G>A	ENST00000528013.6:p.Arg231His
	ENST00000529892.6:c.692G>A	ENST00000529892.6:p.Arg231His
	ENST00000529984.5:c.187+318G>A
	ENST00000531105.5:c.115+1946G>A
	ENST00000672314.2:c.650G>A	ENST00000672314.2:p.Arg217His
	ENST00000672818.3:c.725G>A	ENST00000672818.3:p.Arg242His
	ENST00000710952.2:c.734G>A	ENST00000710952.2:p.Arg245His
	ENST00000713750.1:c.650G>A	ENST00000713750.1:p.Arg217His
	ENST00000713751.1:c.671G>A	ENST00000713751.1:p.Arg224His

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	COSM681164	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2024-03-12	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2024-01-22	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail
Pathogenic Likely pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2	unknown	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2	unknown	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2	unknown	Detail
Likely pathogenic	2019-01-01	criteria provided, single submitter	breast carcinoma	germline unknown	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2021-02-26	criteria provided, single submitter	Diffuse midline glioma, H3 K27-altered	germline	Detail
Pathogenic	2023-11-22	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
0.012	MUTYH-Associate Polyposis	The impact on genetic instability of the p.Tyr179Cys and p.Arg245His MUTYH varia...	BeFree	24569162	Detail
0.013	Multiple polyps	Among patients with a family history compatible with autosomal recessive inherit...	BeFree	16287072	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Breast carcinoma	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Carcinoma of colon	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Diffuse midline glioma, H3 K27-altered	ClinVar	Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND MUTYH-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The impact on genetic instability of the p.Tyr179Cys and p.Arg245His MUTYH variants was evaluated in...	DisGeNET	Detail
Among patients with a family history compatible with autosomal recessive inheritance (n=45), 1 (10.0...	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: rs140342925 dbSNP
Genome: hg38
Position: chr1:45,332,445-45,332,445
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8590
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.3282887077997672E-4
Chromosome Counts in All Race (ExAC): 119490
Allele Counts in All Race (ExAC): 16
Heterozygous Counts in All Race (ExAC): 16
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.339024186124362E-4

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