chr1:45334484:C>T Detail (hg38) (MUTYH)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr1:45,800,156-45,800,156 View the variant detail on this assembly version.
hg38	chr1:45,334,484-45,334,484

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.22G>A	NP_001041637.1:p.Val8Met
	NM_001048173.1:c.22G>A	NP_001041638.1:p.Val8Met
	NM_001293196.1:c.22G>A	NP_001280125.1:p.Val8Met
	NM_001293195.1:c.22G>A	NP_001280124.1:p.Val8Met
	NM_001048171.1:c.64G>A	NP_001041636.1:p.Val22Met
	NM_001293190.1:c.64G>A	NP_001280119.1:p.Val22Met
	NM_001293192.1:c.64G>A	NP_001280121.1:p.Val22Met
	NM_012222.2:c.64G>A	NP_036354.1:p.Val22Met
	NM_001048174.1:c.22G>A	NP_001041639.1:p.Val8Met
	NM_001293191.1:c.22G>A	NP_001280120.1:p.Val8Met
Ensemble	ENST00000354383.10:c.22G>A	ENST00000354383.10:p.Val8Met
	ENST00000355498.6:c.22G>A	ENST00000355498.6:p.Val8Met
	ENST00000372098.7:c.64G>A	ENST00000372098.7:p.Val22Met
	ENST00000372104.5:c.22G>A	ENST00000372104.5:p.Val8Met
	ENST00000372110.7:c.64G>A	ENST00000372110.7:p.Val22Met
	ENST00000372115.7:c.64G>A	ENST00000372115.7:p.Val22Met
	ENST00000412971.6:c.37-1650G>A
	ENST00000448481.5:c.22G>A	ENST00000448481.5:p.Val8Met
	ENST00000456914.7:c.22G>A	ENST00000456914.7:p.Val8Met
	ENST00000483127.2:c.40G>A	ENST00000483127.2:p.Val14Met
	ENST00000488731.6:c.22G>A	ENST00000488731.6:p.Val8Met
	ENST00000528013.6:c.22G>A	ENST00000528013.6:p.Val8Met
	ENST00000529892.6:c.64G>A	ENST00000529892.6:p.Val22Met
	ENST00000529984.5:c.22G>A	ENST00000529984.5:p.Val8Met
	ENST00000531105.5:c.22G>A	ENST00000531105.5:p.Val8Met
	ENST00000672314.2:c.22G>A	ENST00000672314.2:p.Val8Met
	ENST00000672818.3:c.64G>A	ENST00000672818.3:p.Val22Met
	ENST00000710952.2:c.64G>A	ENST00000710952.2:p.Val22Met
	ENST00000713750.1:c.22G>A	ENST00000713750.1:p.Val8Met
	ENST00000713751.1:c.40G>A	ENST00000713751.1:p.Val14Met

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	Benign
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	tgv298240865	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2023-11-28	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline unknown	Detail
Benign	2024-02-05	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline	Detail
Benign	2022-08-04	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign	2019-01-01	criteria provided, single submitter	breast carcinoma	unknown	Detail
Benign		no assertion criteria provided	Carcinoma of colon	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<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
0.009	Malignant neoplasm of lung	We identified three common coding region (V22M, Q324H and S501F) and intronic (1...	BeFree	14579148	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND not specified	ClinVar	Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Breast carcinoma	ClinVar	Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Carcinoma of colon	ClinVar	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
We identified three common coding region (V22M, Q324H and S501F) and intronic (157+30A>G, 462+35G...	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: rs3219484 dbSNP
Genome: hg38
Position: chr1:45,334,484-45,334,484
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.3110700254217703E-4
Chromosome Counts in All Race (ExAC): 121406
Allele Counts in All Race (ExAC): 5967
Heterozygous Counts in All Race (ExAC): 5541
Homozygous Counts in All Race (ExAC): 213
Allele Frequency in All Race (ExAC): 0.04914913595703672

Genome browser