chr1:45332443:C>A 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	chr1:45,798,115-45,798,115 View the variant detail on this assembly version.
hg38	chr1:45,332,443-45,332,443

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.652G>T	NP_001041637.1:p.Val218Phe
	NM_001048173.1:c.652G>T	NP_001041638.1:p.Val218Phe
	NM_001293196.1:c.652G>T	NP_001280125.1:p.Val218Phe
	NM_001293195.1:c.652G>T	NP_001280124.1:p.Val218Phe
	NM_001048171.1:c.694G>T	NP_001041636.1:p.Val232Phe
	NM_001293190.1:c.694G>T	NP_001280119.1:p.Val232Phe
	NM_001293192.1:c.694G>T	NP_001280121.1:p.Val232Phe
	NM_012222.2:c.694G>T	NP_036354.1:p.Val232Phe
	NM_001048174.1:c.652G>T	NP_001041639.1:p.Val218Phe
	NM_001293191.1:c.652G>T	NP_001280120.1:p.Val218Phe
Ensemble	ENST00000354383.10:c.655G>T	ENST00000354383.10:p.Val219Phe
	ENST00000355498.6:c.652G>T	ENST00000355498.6:p.Val218Phe
	ENST00000372098.7:c.727G>T	ENST00000372098.7:p.Val243Phe
	ENST00000372104.5:c.652G>T	ENST00000372104.5:p.Val218Phe
	ENST00000372110.7:c.697G>T	ENST00000372110.7:p.Val233Phe
	ENST00000372115.7:c.694G>T	ENST00000372115.7:p.Val232Phe
	ENST00000412971.6:c.268G>T	ENST00000412971.6:p.Val90Phe
	ENST00000448481.5:c.685G>T	ENST00000448481.5:p.Val229Phe
	ENST00000456914.7:c.652G>T	ENST00000456914.7:p.Val218Phe
	ENST00000483127.2:c.670G>T	ENST00000483127.2:p.Val224Phe
	ENST00000488731.6:c.187+320G>T
	ENST00000528013.6:c.694G>T	ENST00000528013.6:p.Val232Phe
	ENST00000529892.6:c.694G>T	ENST00000529892.6:p.Val232Phe
	ENST00000529984.5:c.187+320G>T
	ENST00000531105.5:c.115+1948G>T
	ENST00000672314.2:c.652G>T	ENST00000672314.2:p.Val218Phe
	ENST00000672818.3:c.727G>T	ENST00000672818.3:p.Val243Phe
	ENST00000710952.2:c.736G>T	ENST00000710952.2:p.Val246Phe
	ENST00000713750.1:c.652G>T	ENST00000713750.1:p.Val218Phe
	ENST00000713751.1:c.673G>T	ENST00000713751.1:p.Val225Phe

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
Conflicting interpretations of pathogenicity	2024-01-04	criteria provided, conflicting interpretations	familial adenomatous polyposis 2	germline unknown	Detail
Likely pathogenic	2023-10-27	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2023-03-27	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2019-09-25	criteria provided, single submitter	pilomatrixoma	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.652G>T (p.Val218Phe) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) AND Pilomatrixoma	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: rs587780749 dbSNP
Genome: hg38
Position: chr1:45,332,443-45,332,443
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8588
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): 119464
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): 8.370722560771445E-6

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