chr1:45329400:C>T 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	chr1:45,795,072-45,795,072 View the variant detail on this assembly version.
hg38	chr1:45,329,400-45,329,400

HGVS

MUTYH

Type	Transcript	Protein
RefSeq	NM_001048172.1:c.1472G>A	NP_001041637.1:p.Arg491Gln
	NM_001048173.1:c.1472G>A	NP_001041638.1:p.Arg491Gln
	NM_001293196.1:c.1472G>A	NP_001280125.1:p.Arg491Gln
	NM_001293195.1:c.1472G>A	NP_001280124.1:p.Arg491Gln
	NM_001048171.1:c.1514G>A	NP_001041636.1:p.Arg505Gln
	NM_001293190.1:c.1514G>A	NP_001280119.1:p.Arg505Gln
	NM_001293192.1:c.1514G>A	NP_001280121.1:p.Arg505Gln
	NM_012222.2:c.1514G>A	NP_036354.1:p.Arg505Gln
	NM_001048174.1:c.1472G>A	NP_001041639.1:p.Arg491Gln
	NM_001293191.1:c.1472G>A	NP_001280120.1:p.Arg491Gln
Ensemble	ENST00000354383.10:c.1475G>A	ENST00000354383.10:p.Arg492Gln
	ENST00000355498.6:c.1472G>A	ENST00000355498.6:p.Arg491Gln
	ENST00000372098.7:c.1547G>A	ENST00000372098.7:p.Arg516Gln
	ENST00000372104.5:c.1472G>A	ENST00000372104.5:p.Arg491Gln
	ENST00000372110.7:c.1517G>A	ENST00000372110.7:p.Arg506Gln
	ENST00000372115.7:c.1514G>A	ENST00000372115.7:p.Arg505Gln
	ENST00000412971.6:c.1088G>A	ENST00000412971.6:p.Arg363Gln
	ENST00000448481.5:c.1505G>A	ENST00000448481.5:p.Arg502Gln
	ENST00000456914.7:c.1472G>A	ENST00000456914.7:p.Arg491Gln
	ENST00000483127.2:c.1490G>A	ENST00000483127.2:p.Arg497Gln
	ENST00000488731.6:c.557G>A	ENST00000488731.6:p.Arg186Gln
	ENST00000528013.6:c.1514G>A	ENST00000528013.6:p.Arg505Gln
	ENST00000529892.6:c.1325G>A	ENST00000529892.6:p.Arg442Gln
	ENST00000529984.5:c.557G>A	ENST00000529984.5:p.Arg186Gln
	ENST00000531105.5:c.153G>A	ENST00000531105.5:p.Ser51=
	ENST00000672314.2:c.1472G>A	ENST00000672314.2:p.Arg491Gln
	ENST00000672818.3:c.1547G>A	ENST00000672818.3:p.Arg516Gln
	ENST00000710952.2:c.1556G>A	ENST00000710952.2:p.Arg519Gln
	ENST00000713750.1:c.1472G>A	ENST00000713750.1:p.Arg491Gln
	ENST00000713751.1:c.1493G>A	ENST00000713751.1:p.Arg498Gln

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	tgv298240681	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2021-03-25	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2024-01-08	criteria provided, multiple submitters, no conflicts	familial adenomatous polyposis 2	germline unknown	Detail
Conflicting interpretations of pathogenicity	2022-11-01	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2021-09-27	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Glaucoma, Primary Open Angle	Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1,...	BeFree	23499241	Detail
<0.001	Glaucoma, Primary Open Angle	Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1,...	BeFree	23499241	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) AND not provided	ClinVar	Detail
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) AND Familial adenomatous polyposis 2	ClinVar	Detail
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) AND not specified	ClinVar	Detail
Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His ...	DisGeNET	Detail
Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His ...	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: rs369410616 dbSNP
Genome: hg38
Position: chr1:45,329,400-45,329,400
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.119023297195769E-5

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