chr1:45800165:G>A Detail (hg19) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,800,165-45,800,165
hg38 chr1:45,334,493-45,334,493 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001048172.1:c.13C>T NP_001041637.1:p.Arg5Ter
NM_001048173.1:c.13C>T NP_001041638.1:p.Arg5Ter
NM_001293196.1:c.13C>T NP_001280125.1:p.Arg5Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 5
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

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 tgv1349993 TogoVar
COSMIC COSM5969454 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
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 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2014-07-24 no assertion criteria provided Carcinoma of colon germline Detail
Pathogenic Likely pathogenic 2024-03-25 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline unknown Detail
Pathogenic 2023-09-28 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter familial adenomatous polyposis 2,Neoplasm of stomach,pilomatrixoma unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.122 colon carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) AND Carcinoma of colon ClinVar Detail
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) AND Gastric cancer 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
rs587780088 dbSNP
Genome
hg19
Position
chr1:45,800,165-45,800,165
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
85.14
Standard deviation of sample read depth (HGVD)
40.82
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1356492969396195E-4
Gene Symbol (HGVD)
MUTYH
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