chr1:45332163:T>G 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	chr1:45,797,835-45,797,835 View the variant detail on this assembly version.
hg38	chr1:45,332,163-45,332,163

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.849+3A>C
	NM_001048173.1:c.849+3A>C
	NM_001293196.1:c.849+3A>C
	NM_001293195.1:c.849+3A>C
	NM_001048171.1:c.891+3A>C
	NM_001293190.1:c.891+3A>C
	NM_001293192.1:c.891+3A>C
	NM_012222.2:c.891+3A>C
	NM_001048174.1:c.849+3A>C
	NM_001293191.1:c.849+3A>C
Ensemble	ENST00000354383.10:c.852+3A>C
	ENST00000355498.6:c.849+3A>C
	ENST00000372098.7:c.924+3A>C
	ENST00000372104.5:c.849+3A>C
	ENST00000372110.7:c.894+3A>C
	ENST00000372115.7:c.891+3A>C
	ENST00000412971.6:c.465+3A>C
	ENST00000448481.5:c.882+3A>C
	ENST00000456914.7:c.849+3A>C
	ENST00000483127.2:c.867+3A>C
	ENST00000488731.6:c.187+600A>C
	ENST00000528013.6:c.891+3A>C
	ENST00000529892.6:c.891+3A>C
	ENST00000529984.5:c.187+600A>C
	ENST00000531105.5:c.115+2228A>C
	ENST00000672314.2:c.849+3A>C
	ENST00000672818.3:c.924+3A>C
	ENST00000710952.2:c.933+3A>C
	ENST00000713750.1:c.849+3A>C
	ENST00000713751.1:c.870+3A>C

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	Conflicting classifications of pathogenicity
Review star
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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	2024-02-05	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail
Pathogenic Likely pathogenic	2024-02-16	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance	2017-01-01	criteria provided, single submitter		unknown	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2023-12-31	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

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.849+3A>C AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.849+3A>C AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.849+3A>C AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.849+3A>C AND Colon cancer	ClinVar	Detail
NM_001048174.2(MUTYH):c.849+3A>C AND Carcinoma of colon	ClinVar	Detail
NM_001048174.2(MUTYH):c.849+3A>C AND MUTYH-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587780751 dbSNP
Genome: hg38
Position: chr1:45,332,163-45,332,163
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8642
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): 121158
Allele Counts in All Race (ExAC): 8
Heterozygous Counts in All Race (ExAC): 8
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.602948216378613E-5

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