chr1:45329316:G> 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	chr1:45,794,988-45,794,988
hg38	chr1:45,329,316-45,329,316

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.1556delC	NP_001041637.1:p.Ala519GlufsTer24
	NM_001048173.1:c.1556delC	NP_001041638.1:p.Ala519GlufsTer24
	NM_001293196.1:c.1556delC	NP_001280125.1:p.Ala519GlufsTer24
	NM_001293195.1:c.1556delC	NP_001280124.1:p.Ala519GlufsTer24
	NM_001048171.1:c.1598delC	NP_001041636.1:p.Ala533GlufsTer24
	NM_001293190.1:c.1598delC	NP_001280119.1:p.Ala533GlufsTer24
	NM_001293192.1:c.1598delC	NP_001280121.1:p.Ala533GlufsTer24
	NM_012222.2:c.1598delC	NP_036354.1:p.Ala533GlufsTer24
	NM_001048174.1:c.1556delC	NP_001041639.1:p.Ala519GlufsTer24
	NM_001293191.1:c.1556delC	NP_001280120.1:p.Ala519GlufsTer24
Ensemble	ENST00000354383.10:c.1559delC	ENST00000354383.10:p.Ala520GlufsTer24
	ENST00000355498.6:c.1556delC	ENST00000355498.6:p.Ala519GlufsTer24
	ENST00000372098.7:c.1631delC	ENST00000372098.7:p.Ala544GlufsTer24
	ENST00000372104.5:c.1556delC	ENST00000372104.5:p.Ala519GlufsTer24
	ENST00000372110.7:c.1601delC	ENST00000372110.7:p.Ala534GlufsTer24
	ENST00000372115.7:c.1598delC	ENST00000372115.7:p.Ala533GlufsTer24
	ENST00000412971.6:c.1172delC	ENST00000412971.6:p.Ala391GlufsTer24
	ENST00000448481.5:c.1589delC	ENST00000448481.5:p.Ala530GlufsTer24
	ENST00000456914.7:c.1556delC	ENST00000456914.7:p.Ala519GlufsTer24
	ENST00000483127.2:c.1574delC	ENST00000483127.2:p.Ala525GlufsTer24
	ENST00000488731.6:c.641delC	ENST00000488731.6:p.Ala214GlufsTer24
	ENST00000528013.6:c.1598delC	ENST00000528013.6:p.Ala533GlufsTer?
	ENST00000529892.6:c.1409delC	ENST00000529892.6:p.Ala470GlufsTer?
	ENST00000529984.5:c.641delC	ENST00000529984.5:p.Ala214GlufsTer24
	ENST00000531105.5:c.*48delC
	ENST00000672314.2:c.1556delC	ENST00000672314.2:p.Ala519GlufsTer?
	ENST00000672818.3:c.1631delC	ENST00000672818.3:p.Ala544GlufsTer24
	ENST00000710952.2:c.1640delC	ENST00000710952.2:p.Ala547GlufsTer24
	ENST00000713750.1:c.1556delC	ENST00000713750.1:p.Ala519GlufsTer24
	ENST00000713751.1:c.1577delC	ENST00000713751.1:p.Ala526GlufsTer24

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
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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
Uncertain significance	2014-02-21	criteria provided, single submitter	not provided	germline	Detail
Conflicting interpretations of pathogenicity	2023-10-15	criteria provided, conflicting interpretations	familial adenomatous polyposis 2	germline unknown	Detail
Conflicting interpretations of pathogenicity	2023-09-26	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	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.1556del (p.Ala519fs) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) AND Hereditary cancer-predisposing syndrome	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: rs587780086 dbSNP
Genome: hg38
Position: chr1:45,329,316-45,329,316
Variant Type: snv
Reference Allele: G
Alternative Allele: -
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): 121408
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): 8.236689509752241E-6

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