chr1:45798467:G>A Detail (hg19) (MUTYH)

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

Information

Genome

Assembly	Position
hg19	chr1:45,798,467-45,798,467
hg38	chr1:45,332,795-45,332,795 View the variant detail on this assembly version.

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048174.1:c.460C>T	NP_001041639.1:p.Arg154Cys
	NM_001293191.1:c.460C>T	NP_001280120.1:p.Arg154Cys
	NM_001048172.1:c.460C>T	NP_001041637.1:p.Arg154Cys
	NM_001048173.1:c.460C>T	NP_001041638.1:p.Arg154Cys
	NM_001293196.1:c.460C>T	NP_001280125.1:p.Arg154Cys
	NM_001293195.1:c.460C>T	NP_001280124.1:p.Arg154Cys
	NM_001048171.1:c.502C>T	NP_001041636.1:p.Arg168Cys
	NM_001293190.1:c.502C>T	NP_001280119.1:p.Arg168Cys
	NM_001293192.1:c.502C>T	NP_001280121.1:p.Arg168Cys
	NM_012222.2:c.502C>T	NP_036354.1:p.Arg168Cys
Ensemble	ENST00000456914.7:c.460C>T	ENST00000456914.7:p.Arg154Cys
	ENST00000531105.5:c.115+1596C>T
	ENST00000488731.6:c.155C>T	ENST00000488731.6:p.Ser52Leu
	ENST00000713751.1:c.481C>T	ENST00000713751.1:p.Arg161Cys
	ENST00000355498.6:c.460C>T	ENST00000355498.6:p.Arg154Cys
	ENST00000528013.6:c.502C>T	ENST00000528013.6:p.Arg168Cys
	ENST00000412971.6:c.76C>T	ENST00000412971.6:p.Arg26Cys
	ENST00000372104.5:c.460C>T	ENST00000372104.5:p.Arg154Cys
	ENST00000354383.10:c.463C>T	ENST00000354383.10:p.Arg155Cys
	ENST00000672314.2:c.460C>T	ENST00000672314.2:p.Arg154Cys
	ENST00000483127.2:c.478C>T	ENST00000483127.2:p.Arg160Cys
	ENST00000372115.7:c.502C>T	ENST00000372115.7:p.Arg168Cys
	ENST00000529984.5:c.155C>T	ENST00000529984.5:p.Ser52Leu
	ENST00000372110.7:c.505C>T	ENST00000372110.7:p.Arg169Cys
	ENST00000713750.1:c.460C>T	ENST00000713750.1:p.Arg154Cys
	ENST00000710952.2:c.544C>T	ENST00000710952.2:p.Arg182Cys
	ENST00000529892.6:c.502C>T	ENST00000529892.6:p.Arg168Cys
	ENST00000372098.7:c.535C>T	ENST00000372098.7:p.Arg179Cys
	ENST00000448481.5:c.493C>T	ENST00000448481.5:p.Arg165Cys
	ENST00000672818.3:c.535C>T	ENST00000672818.3:p.Arg179Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:<0.001
	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	tgv1349645	TogoVar
	COSMIC	COSM5509691	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-20	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2024-03-25	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail
Pathogenic Likely pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2019-11-15	criteria provided, single submitter	pilomatrixoma	germline	Detail
Benign	2022-01-01	criteria provided, single submitter	ovarian cancer	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Pilomatrixoma	ClinVar	Detail
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Ovarian cancer	ClinVar	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: rs747993448 dbSNP
Genome: hg19
Position: chr1:45,798,467-45,798,467
Variant Type: snv
Reference Allele: G
Alternative Allele: A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs747993448
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
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): 121384
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): 8.238318064983852E-6

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