chr1:45332242: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	chr1:45,797,914-45,797,914 View the variant detail on this assembly version.
hg38	chr1:45,332,242-45,332,242

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.773G>T	NP_001041637.1:p.Gly258Val
	NM_001048173.1:c.773G>T	NP_001041638.1:p.Gly258Val
	NM_001293196.1:c.773G>T	NP_001280125.1:p.Gly258Val
	NM_001293195.1:c.773G>T	NP_001280124.1:p.Gly258Val
	NM_001048171.1:c.815G>T	NP_001041636.1:p.Gly272Val
	NM_001293190.1:c.815G>T	NP_001280119.1:p.Gly272Val
	NM_001293192.1:c.815G>T	NP_001280121.1:p.Gly272Val
	NM_012222.2:c.815G>T	NP_036354.1:p.Gly272Val
	NM_001048174.1:c.773G>T	NP_001041639.1:p.Gly258Val
	NM_001293191.1:c.773G>T	NP_001280120.1:p.Gly258Val
Ensemble	ENST00000354383.10:c.776G>T	ENST00000354383.10:p.Gly259Val
	ENST00000355498.6:c.773G>T	ENST00000355498.6:p.Gly258Val
	ENST00000372098.7:c.848G>T	ENST00000372098.7:p.Gly283Val
	ENST00000372104.5:c.773G>T	ENST00000372104.5:p.Gly258Val
	ENST00000372110.7:c.818G>T	ENST00000372110.7:p.Gly273Val
	ENST00000372115.7:c.815G>T	ENST00000372115.7:p.Gly272Val
	ENST00000412971.6:c.389G>T	ENST00000412971.6:p.Gly130Val
	ENST00000448481.5:c.806G>T	ENST00000448481.5:p.Gly269Val
	ENST00000456914.7:c.773G>T	ENST00000456914.7:p.Gly258Val
	ENST00000483127.2:c.791G>T	ENST00000483127.2:p.Gly264Val
	ENST00000488731.6:c.187+521G>T
	ENST00000528013.6:c.815G>T	ENST00000528013.6:p.Gly272Val
	ENST00000529892.6:c.815G>T	ENST00000529892.6:p.Gly272Val
	ENST00000529984.5:c.187+521G>T
	ENST00000531105.5:c.115+2149G>T
	ENST00000672314.2:c.773G>T	ENST00000672314.2:p.Gly258Val
	ENST00000672818.3:c.848G>T	ENST00000672818.3:p.Gly283Val
	ENST00000710952.2:c.857G>T	ENST00000710952.2:p.Gly286Val
	ENST00000713750.1:c.773G>T	ENST00000713750.1:p.Gly258Val
	ENST00000713751.1:c.794G>T	ENST00000713751.1:p.Gly265Val

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	Uncertain significance
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
Uncertain significance	2023-09-22	criteria provided, single submitter	familial adenomatous polyposis 2	germline	Detail
Uncertain significance	2019-10-18	criteria provided, single submitter	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.773G>T (p.Gly258Val) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.773G>T (p.Gly258Val) 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: rs730881833 dbSNP
Genome: hg38
Position: chr1:45,332,242-45,332,242
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8616
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): 120174
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): 8.32126749546491E-6

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