chr1:45332446:G>A Detail (hg38) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,798,118-45,798,118 View the variant detail on this assembly version.
hg38 chr1:45,332,446-45,332,446

HGVS

Type Transcript Protein
RefSeq NM_001048174.1:c.649C>T NP_001041639.1:p.Arg217Cys
NM_001293191.1:c.649C>T NP_001280120.1:p.Arg217Cys
NM_001048172.1:c.649C>T NP_001041637.1:p.Arg217Cys
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance 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 tgv1349495 TogoVar
COSMIC COSM6954579 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2020/07/15 carcinoma in situ of breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2020/07/15 breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-13 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 unknown germline Detail
Pathogenic 2023-04-05 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-04-02 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter Familial colorectal cancer germline Detail
Pathogenic 2022-04-19 criteria provided, single submitter Gastric cancer,familial adenomatous polyposis 2 unknown Detail
Pathogenic 2022-04-19 criteria provided, single submitter Gastric cancer,familial adenomatous polyposis 2 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
0.480 Colorectal Adenomatous Polyposis, Autosomal Recessive NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) AND Familial colorectal cancer ClinVar Detail
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) AND multiple conditions ClinVar Detail
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) 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
rs200495564 dbSNP
Genome
hg38
Position
chr1:45,332,446-45,332,446
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs200495564
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8588
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1644154634373545E-4
Chromosome Counts in All Race (ExAC)
119478
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.369741709770836E-5
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