chr1:45799124:C>T Detail (hg19) (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	chr1:45,799,124-45,799,124
hg38	chr1:45,333,452-45,333,452 View the variant detail on this assembly version.

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.225G>A	NP_001041637.1:p.Trp75Ter
	NM_001048173.1:c.225G>A	NP_001041638.1:p.Trp75Ter
	NM_001293196.1:c.225G>A	NP_001280125.1:p.Trp75Ter
	NM_001293195.1:c.225G>A	NP_001280124.1:p.Trp75Ter
	NM_001048174.1:c.225G>A	NP_001041639.1:p.Trp75Ter
	NM_001293191.1:c.225G>A	NP_001280120.1:p.Trp75Ter
	NM_001048171.1:c.267G>A	NP_001041636.1:p.Trp89Ter
	NM_001293190.1:c.267G>A	NP_001280119.1:p.Trp89Ter
	NM_001293192.1:c.267G>A	NP_001280121.1:p.Trp89Ter
	NM_012222.2:c.267G>A	NP_036354.1:p.Trp89Ter
Ensemble	ENST00000372110.7:c.270G>A	ENST00000372110.7:p.Trp90Ter
	ENST00000713750.1:c.225G>A	ENST00000713750.1:p.Trp75Ter
	ENST00000710952.2:c.309G>A	ENST00000710952.2:p.Trp103Ter
	ENST00000529892.6:c.267G>A	ENST00000529892.6:p.Trp89Ter
	ENST00000448481.5:c.258G>A	ENST00000448481.5:p.Trp86Ter
	ENST00000372098.7:c.300G>A	ENST00000372098.7:p.Trp100Ter
	ENST00000672818.3:c.300G>A	ENST00000672818.3:p.Trp100Ter
	ENST00000531105.5:c.115+939G>A
	ENST00000488731.6:c.116-618G>A
	ENST00000713751.1:c.246G>A	ENST00000713751.1:p.Trp82Ter
	ENST00000355498.6:c.225G>A	ENST00000355498.6:p.Trp75Ter
	ENST00000372104.5:c.225G>A	ENST00000372104.5:p.Trp75Ter
	ENST00000412971.6:c.37-618G>A
	ENST00000528013.6:c.267G>A	ENST00000528013.6:p.Trp89Ter
	ENST00000483127.2:c.243G>A	ENST00000483127.2:p.Trp81Ter
	ENST00000672314.2:c.225G>A	ENST00000672314.2:p.Trp75Ter
	ENST00000354383.10:c.228G>A	ENST00000354383.10:p.Trp76Ter
	ENST00000456914.7:c.225G>A	ENST00000456914.7:p.Trp75Ter
	ENST00000529984.5:c.116-618G>A
	ENST00000372115.7:c.267G>A	ENST00000372115.7:p.Trp89Ter

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
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	2023-05-04	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-13	criteria provided, conflicting interpretations	familial adenomatous polyposis 2	germline unknown	Detail
Pathogenic	2018-02-21	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	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.225G>A (p.Trp75Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) AND not provided	ClinVar	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: rs748170941 dbSNP
Genome: hg19
Position: chr1:45,799,124-45,799,124
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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): 121396
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): 8.237503706876667E-6

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