chr1:45332215:G>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	chr1:45,797,887-45,797,887 View the variant detail on this assembly version.
hg38	chr1:45,332,215-45,332,215

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.800C>T	NP_001041637.1:p.Pro267Leu
	NM_001048173.1:c.800C>T	NP_001041638.1:p.Pro267Leu
	NM_001293196.1:c.800C>T	NP_001280125.1:p.Pro267Leu
	NM_001293195.1:c.800C>T	NP_001280124.1:p.Pro267Leu
	NM_001048171.1:c.842C>T	NP_001041636.1:p.Pro281Leu
	NM_001293190.1:c.842C>T	NP_001280119.1:p.Pro281Leu
	NM_001293192.1:c.842C>T	NP_001280121.1:p.Pro281Leu
	NM_012222.2:c.842C>T	NP_036354.1:p.Pro281Leu
	NM_001048174.1:c.800C>T	NP_001041639.1:p.Pro267Leu
	NM_001293191.1:c.800C>T	NP_001280120.1:p.Pro267Leu
Ensemble	ENST00000354383.10:c.803C>T	ENST00000354383.10:p.Pro268Leu
	ENST00000355498.6:c.800C>T	ENST00000355498.6:p.Pro267Leu
	ENST00000372098.7:c.875C>T	ENST00000372098.7:p.Pro292Leu
	ENST00000372104.5:c.800C>T	ENST00000372104.5:p.Pro267Leu
	ENST00000372110.7:c.845C>T	ENST00000372110.7:p.Pro282Leu
	ENST00000372115.7:c.842C>T	ENST00000372115.7:p.Pro281Leu
	ENST00000412971.6:c.416C>T	ENST00000412971.6:p.Pro139Leu
	ENST00000448481.5:c.833C>T	ENST00000448481.5:p.Pro278Leu
	ENST00000456914.7:c.800C>T	ENST00000456914.7:p.Pro267Leu
	ENST00000483127.2:c.818C>T	ENST00000483127.2:p.Pro273Leu
	ENST00000488731.6:c.187+548C>T
	ENST00000528013.6:c.842C>T	ENST00000528013.6:p.Pro281Leu
	ENST00000529892.6:c.842C>T	ENST00000529892.6:p.Pro281Leu
	ENST00000529984.5:c.187+548C>T
	ENST00000531105.5:c.115+2176C>T
	ENST00000672314.2:c.800C>T	ENST00000672314.2:p.Pro267Leu
	ENST00000672818.3:c.875C>T	ENST00000672818.3:p.Pro292Leu
	ENST00000710952.2:c.884C>T	ENST00000710952.2:p.Pro295Leu
	ENST00000713750.1:c.800C>T	ENST00000713750.1:p.Pro267Leu
	ENST00000713751.1:c.821C>T	ENST00000713751.1:p.Pro274Leu

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 Likely 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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2022-11-16	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic Likely pathogenic	2024-01-04	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail
Pathogenic		no assertion criteria provided	Carcinoma of colon	unknown	Detail
Pathogenic	2021-08-08	no assertion criteria provided	breast carcinoma	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.800C>T (p.Pro267Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) AND Carcinoma of colon	ClinVar	Detail
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) AND Breast carcinoma	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: rs374950566 dbSNP
Genome: hg38
Position: chr1:45,332,215-45,332,215
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8630
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): 120582
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): 8.293111741387604E-6

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