chr1:45340381:G>A Detail (hg38) (MUTYH, TOE1)

Information

Genome

Assembly Position
hg19 chr1:45,806,053-45,806,053 View the variant detail on this assembly version.
hg38 chr1:45,340,381-45,340,381

HGVS

Type Transcript Protein
RefSeq NM_001048171.1:c.-127C>T
NM_001293190.1:c.-127C>T
NM_001293192.1:c.-127C>T
Type Transcript Protein
RefSeq NM_025077.3:c.52+77G>A
Ensemble ENST00000372090.6:c.52+77G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 tgv298241084 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 613931 OMIM
HGNC 15954 HGNC
Ensembl ENSG00000132773 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv298241084 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2021-05-11 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance no assertion criteria provided not provided unknown Detail
Benign Likely benign 2023-11-27 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 melanoma We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, X... BeFree 22687647 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_025077.4(TOE1):c.52+77G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_025077.4(TOE1):c.52+77G>A AND not provided ClinVar Detail
NM_025077.4(TOE1):c.52+77G>A AND Familial adenomatous polyposis 2 ClinVar Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs2548... 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
rs3219466 dbSNP
Genome
hg38
Position
chr1:45,340,381-45,340,381
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser