chr1:45332278:C>T Detail (hg38) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,797,950-45,797,950 View the variant detail on this assembly version.
hg38 chr1:45,332,278-45,332,278

HGVS

Type Transcript Protein
RefSeq NM_001048172.1:c.737G>A NP_001041637.1:p.Arg246Gln
NM_001048173.1:c.737G>A NP_001041638.1:p.Arg246Gln
NM_001293196.1:c.737G>A NP_001280125.1:p.Arg246Gln
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
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 COSM4008494 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-08-28 criteria provided, conflicting interpretations not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2024-01-28 criteria provided, conflicting interpretations familial adenomatous polyposis 2 germline unknown Detail
Conflicting interpretations of pathogenicity 2023-07-15 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-10-05 criteria provided, multiple submitters, no conflicts not specified 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
<0.001 Impaired cognition Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(... BeFree 21884718 Detail
<0.001 Impaired cognition Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(... BeFree 21884718 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) AND not specified ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2... DisGeNET Detail
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2... 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
rs149866955 dbSNP
Genome
hg38
Position
chr1:45,332,278-45,332,278
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8602
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)
119310
Allele Counts in All Race (ExAC)
30
Heterozygous Counts in All Race (ExAC)
30
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.5144581342720644E-4
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