chr1:45332278: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	chr1:45,797,950-45,797,950 View the variant detail on this assembly version.
hg38	chr1:45,332,278-45,332,278

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.737G>A	NP_001041637.1:p.Arg246Gln
	NM_001048173.1:c.737G>A	NP_001041638.1:p.Arg246Gln
	NM_001293196.1:c.737G>A	NP_001280125.1:p.Arg246Gln
	NM_001293195.1:c.737G>A	NP_001280124.1:p.Arg246Gln
	NM_001048171.1:c.779G>A	NP_001041636.1:p.Arg260Gln
	NM_001293190.1:c.779G>A	NP_001280119.1:p.Arg260Gln
	NM_001293192.1:c.779G>A	NP_001280121.1:p.Arg260Gln
	NM_012222.2:c.779G>A	NP_036354.1:p.Arg260Gln
	NM_001048174.1:c.737G>A	NP_001041639.1:p.Arg246Gln
	NM_001293191.1:c.737G>A	NP_001280120.1:p.Arg246Gln
Ensemble	ENST00000354383.10:c.740G>A	ENST00000354383.10:p.Arg247Gln
	ENST00000355498.6:c.737G>A	ENST00000355498.6:p.Arg246Gln
	ENST00000372098.7:c.812G>A	ENST00000372098.7:p.Arg271Gln
	ENST00000372104.5:c.737G>A	ENST00000372104.5:p.Arg246Gln
	ENST00000372110.7:c.782G>A	ENST00000372110.7:p.Arg261Gln
	ENST00000372115.7:c.779G>A	ENST00000372115.7:p.Arg260Gln
	ENST00000412971.6:c.353G>A	ENST00000412971.6:p.Arg118Gln
	ENST00000448481.5:c.770G>A	ENST00000448481.5:p.Arg257Gln
	ENST00000456914.7:c.737G>A	ENST00000456914.7:p.Arg246Gln
	ENST00000483127.2:c.755G>A	ENST00000483127.2:p.Arg252Gln
	ENST00000488731.6:c.187+485G>A
	ENST00000528013.6:c.779G>A	ENST00000528013.6:p.Arg260Gln
	ENST00000529892.6:c.779G>A	ENST00000529892.6:p.Arg260Gln
	ENST00000529984.5:c.187+485G>A
	ENST00000531105.5:c.115+2113G>A
	ENST00000672314.2:c.737G>A	ENST00000672314.2:p.Arg246Gln
	ENST00000672818.3:c.812G>A	ENST00000672818.3:p.Arg271Gln
	ENST00000710952.2:c.821G>A	ENST00000710952.2:p.Arg274Gln
	ENST00000713750.1:c.737G>A	ENST00000713750.1:p.Arg246Gln
	ENST00000713751.1:c.758G>A	ENST00000713751.1:p.Arg253Gln

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	COSM4008494	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-08-28	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Conflicting interpretations of pathogenicity	2024-01-28	criteria provided, conflicting interpretations	familial adenomatous polyposis 2	germline unknown	Detail
Conflicting interpretations of pathogenicity	2023-07-15	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-10-05	criteria provided, multiple submitters, no conflicts	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
<0.001	Impaired cognition	Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(...	BeFree	21884718	Detail
<0.001	Impaired cognition	Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(...	BeFree	21884718	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2...	DisGeNET	Detail
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2...	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: rs149866955 dbSNP
Genome: hg38
Position: chr1:45,332,278-45,332,278
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8602
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): 119310
Allele Counts in All Race (ExAC): 30
Heterozygous Counts in All Race (ExAC): 30
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.5144581342720644E-4

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