chr1:45332794:C>A Detail (hg38) (MUTYH)

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

Information

Genome

Assembly	Position
hg19	chr1:45,798,466-45,798,466 View the variant detail on this assembly version.
hg38	chr1:45,332,794-45,332,794

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.461G>T	NP_001041637.1:p.Arg154Leu
	NM_001048173.1:c.461G>T	NP_001041638.1:p.Arg154Leu
	NM_001293196.1:c.461G>T	NP_001280125.1:p.Arg154Leu
	NM_001293195.1:c.461G>T	NP_001280124.1:p.Arg154Leu
	NM_001048171.1:c.503G>T	NP_001041636.1:p.Arg168Leu
	NM_001293190.1:c.503G>T	NP_001280119.1:p.Arg168Leu
	NM_001293192.1:c.503G>T	NP_001280121.1:p.Arg168Leu
	NM_012222.2:c.503G>T	NP_036354.1:p.Arg168Leu
	NM_001048174.1:c.461G>T	NP_001041639.1:p.Arg154Leu
	NM_001293191.1:c.461G>T	NP_001280120.1:p.Arg154Leu
Ensemble	ENST00000354383.10:c.464G>T	ENST00000354383.10:p.Arg155Leu
	ENST00000355498.6:c.461G>T	ENST00000355498.6:p.Arg154Leu
	ENST00000372098.7:c.536G>T	ENST00000372098.7:p.Arg179Leu
	ENST00000372104.5:c.461G>T	ENST00000372104.5:p.Arg154Leu
	ENST00000372110.7:c.506G>T	ENST00000372110.7:p.Arg169Leu
	ENST00000372115.7:c.503G>T	ENST00000372115.7:p.Arg168Leu
	ENST00000412971.6:c.77G>T	ENST00000412971.6:p.Arg26Leu
	ENST00000448481.5:c.494G>T	ENST00000448481.5:p.Arg165Leu
	ENST00000456914.7:c.461G>T	ENST00000456914.7:p.Arg154Leu
	ENST00000483127.2:c.479G>T	ENST00000483127.2:p.Arg160Leu
	ENST00000488731.6:c.156G>T	ENST00000488731.6:p.Ser52=
	ENST00000528013.6:c.503G>T	ENST00000528013.6:p.Arg168Leu
	ENST00000529892.6:c.503G>T	ENST00000529892.6:p.Arg168Leu
	ENST00000529984.5:c.156G>T	ENST00000529984.5:p.Ser52=
	ENST00000531105.5:c.115+1597G>T
	ENST00000672314.2:c.461G>T	ENST00000672314.2:p.Arg154Leu
	ENST00000672818.3:c.536G>T	ENST00000672818.3:p.Arg179Leu
	ENST00000710952.2:c.545G>T	ENST00000710952.2:p.Arg182Leu
	ENST00000713750.1:c.461G>T	ENST00000713750.1:p.Arg154Leu
	ENST00000713751.1:c.482G>T	ENST00000713751.1:p.Arg161Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
Conflicting interpretations of pathogenicity	2023-10-03	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2023-12-01	criteria provided, conflicting interpretations	familial adenomatous polyposis 2	germline	Detail
Likely pathogenic	2023-07-11	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-08-15	criteria provided, single submitter	not specified	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.461G>T (p.Arg154Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) AND not specified	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: rs143353451 dbSNP
Genome: hg38
Position: chr1:45,332,794-45,332,794
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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