chr1:45799121:G>A Detail (hg19) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,799,121-45,799,121
hg38 chr1:45,333,449-45,333,449 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001048174.1:c.228C>T NP_001041639.1:p.Tyr76=
NM_001293191.1:c.228C>T NP_001280120.1:p.Tyr76=
NM_001048171.1:c.270C>T NP_001041636.1:p.Tyr90=
Summary

MGeND

Clinical significance
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 Conflicting classifications of pathogenicity
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 tgv1349841 TogoVar
COSMIC COSM910161 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-02-05 criteria provided, conflicting interpretations familial adenomatous polyposis 2 germline unknown Detail
Benign Likely benign 2022-08-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign Likely benign 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely benign no assertion criteria provided Carcinoma of colon unknown 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.228C>T (p.Tyr76=) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) AND not specified ClinVar Detail
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) AND Carcinoma of colon 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
rs121908380 dbSNP
Genome
hg19
Position
chr1:45,799,121-45,799,121
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))
rs121908380
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)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121398
Allele Counts in All Race (ExAC)
161
Heterozygous Counts in All Race (ExAC)
161
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0013262162473846356
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