chr1:45331220:C>A Detail (hg38) (MUTYH)

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

Information

Genome

Assembly	Position
hg19	chr1:45,796,892-45,796,892 View the variant detail on this assembly version.
hg38	chr1:45,331,220-45,331,220

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.1354G>T	NP_001041637.1:p.Glu452Ter
	NM_001048173.1:c.1354G>T	NP_001041638.1:p.Glu452Ter
	NM_001293196.1:c.1354G>T	NP_001280125.1:p.Glu452Ter
	NM_001293195.1:c.1354G>T	NP_001280124.1:p.Glu452Ter
	NM_001048171.1:c.1396G>T	NP_001041636.1:p.Glu466Ter
	NM_001293190.1:c.1396G>T	NP_001280119.1:p.Glu466Ter
	NM_001293192.1:c.1396G>T	NP_001280121.1:p.Glu466Ter
	NM_012222.2:c.1396G>T	NP_036354.1:p.Glu466Ter
	NM_001048174.1:c.1354G>T	NP_001041639.1:p.Glu452Ter
	NM_001293191.1:c.1354G>T	NP_001280120.1:p.Glu452Ter
Ensemble	ENST00000354383.10:c.1357G>T	ENST00000354383.10:p.Glu453Ter
	ENST00000355498.6:c.1354G>T	ENST00000355498.6:p.Glu452Ter
	ENST00000372098.7:c.1429G>T	ENST00000372098.7:p.Glu477Ter
	ENST00000372104.5:c.1354G>T	ENST00000372104.5:p.Glu452Ter
	ENST00000372110.7:c.1399G>T	ENST00000372110.7:p.Glu467Ter
	ENST00000372115.7:c.1396G>T	ENST00000372115.7:p.Glu466Ter
	ENST00000412971.6:c.970G>T	ENST00000412971.6:p.Glu324Ter
	ENST00000448481.5:c.1387G>T	ENST00000448481.5:p.Glu463Ter
	ENST00000456914.7:c.1354G>T	ENST00000456914.7:p.Glu452Ter
	ENST00000483127.2:c.1372G>T	ENST00000483127.2:p.Glu458Ter
	ENST00000488731.6:c.439G>T	ENST00000488731.6:p.Glu147Ter
	ENST00000528013.6:c.1396G>T	ENST00000528013.6:p.Glu466Ter
	ENST00000529892.6:c.1207G>T	ENST00000529892.6:p.Glu403Ter
	ENST00000529984.5:c.439G>T	ENST00000529984.5:p.Glu147Ter
	ENST00000531105.5:c.116-1783G>T
	ENST00000672314.2:c.1354G>T	ENST00000672314.2:p.Glu452Ter
	ENST00000672818.3:c.1429G>T	ENST00000672818.3:p.Glu477Ter
	ENST00000710952.2:c.1438G>T	ENST00000710952.2:p.Glu480Ter
	ENST00000713750.1:c.1354G>T	ENST00000713750.1:p.Glu452Ter
	ENST00000713751.1:c.1375G>T	ENST00000713751.1:p.Glu459Ter

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	Pathogenic
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	tgv298240755	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-19	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail
Pathogenic	2023-09-29	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2021-05-11	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Gastric cancer,familial adenomatous polyposis 2	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Gastric cancer,familial adenomatous polyposis 2	unknown	Detail
Pathogenic		criteria provided, single submitter	MUTYH-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Colorectal Adenomatous Polyposis, Autosomal Recessive	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) AND Carcinoma of colon	ClinVar	Detail
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) AND multiple conditions	ClinVar	Detail
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) AND multiple conditions	ClinVar	Detail
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) AND MUTYH-related disorder	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: rs121908381 dbSNP
Genome: hg38
Position: chr1:45,331,220-45,331,220
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8652
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): 121388
Allele Counts in All Race (ExAC): 12
Heterozygous Counts in All Race (ExAC): 12
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.885655913269845E-5

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