chr1:45798117:C>T Detail (hg19) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,798,117-45,798,117
hg38 chr1:45,332,445-45,332,445 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001048174.1:c.650G>A NP_001041639.1:p.Arg217His
NM_001293191.1:c.650G>A NP_001280120.1:p.Arg217His
NM_001048171.1:c.692G>A NP_001041636.1:p.Arg231His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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
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 COSM681164 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2021/03/19 Colorectal germline MGS000050
(TMGS000114)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-03-12 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-01-22 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline unknown Detail
Pathogenic Likely pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2 unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2 unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Neoplasm of stomach,pilomatrixoma,familial adenomatous polyposis 2 unknown Detail
Likely pathogenic 2019-01-01 criteria provided, single submitter breast carcinoma germline unknown Detail
Pathogenic no assertion criteria provided Carcinoma of colon unknown Detail
Pathogenic 2021-02-26 criteria provided, single submitter Diffuse midline glioma, H3 K27-altered germline Detail
Pathogenic 2023-11-22 criteria provided, single submitter MUTYH-related disorder 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
0.012 MUTYH-Associate Polyposis The impact on genetic instability of the p.Tyr179Cys and p.Arg245His MUTYH varia... BeFree 24569162 Detail
0.013 Multiple polyps Among patients with a family history compatible with autosomal recessive inherit... BeFree 16287072 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Breast carcinoma ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Carcinoma of colon ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND Diffuse midline glioma, H3 K27-altered ClinVar Detail
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) AND MUTYH-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The impact on genetic instability of the p.Tyr179Cys and p.Arg245His MUTYH variants was evaluated in... DisGeNET Detail
Among patients with a family history compatible with autosomal recessive inheritance (n=45), 1 (10.0... 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
rs140342925 dbSNP
Genome
hg19
Position
chr1:45,798,117-45,798,117
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8590
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3282887077997672E-4
Chromosome Counts in All Race (ExAC)
119490
Allele Counts in All Race (ExAC)
16
Heterozygous Counts in All Race (ExAC)
16
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.339024186124362E-4
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