chr14:95554142:T>C Detail (hg19) (DICER1)

Information

Genome

Assembly Position
hg19 chr14:95,554,142-95,554,142
hg38 chr14:95,087,805-95,087,805 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001291628.1:c.*2693A>G
NM_030621.4:c.*2693A>G
NM_177438.2:c.*2693A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.115
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606241 OMIM
HGNC 17098 HGNC
Ensembl ENSG00000100697 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51810475 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2022-11-04 criteria provided, multiple submitters, no conflicts DICER1-related tumor predisposition germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 hepatitis B We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a... BeFree 23868705 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 liver carcinoma These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
<0.001 liver carcinoma These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
<0.001 Persistent infection We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a... BeFree 23868705 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
0.001 colorectal cancer Finally, we observed that homozygous CC genotype of DICER1, rs1057035, was signi... BeFree 23441612 Detail
<0.001 Malignant neoplasm of mouth These findings indicated that rs1057035 located at 3'UTR of DICER may contribute... BeFree 23071822 Detail
<0.001 Lip and oral cavity carcinoma These findings indicated that rs1057035 located at 3'UTR of DICER may contribute... BeFree 23071822 Detail
<0.001 hepatitis B These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
<0.001 Cancer of Head and Neck To test this hypothesis, we genotyped three SNPs at miRNA binding sites of miRNA... BeFree 23071822 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
0.001 colorectal carcinoma Finally, we observed that homozygous CC genotype of DICER1, rs1057035, was signi... BeFree 23441612 Detail
<0.001 liver carcinoma We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a... BeFree 23868705 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 hepatitis B These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
<0.001 Persistent infection We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a... BeFree 23868705 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_177438.3(DICER1):c.*2693A>G AND DICER1-related tumor predisposition ClinVar Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... DisGeNET Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... DisGeNET Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
Finally, we observed that homozygous CC genotype of DICER1, rs1057035, was significantly associated ... DisGeNET Detail
These findings indicated that rs1057035 located at 3'UTR of DICER may contribute to the risk of oral... DisGeNET Detail
These findings indicated that rs1057035 located at 3'UTR of DICER may contribute to the risk of oral... DisGeNET Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... DisGeNET Detail
To test this hypothesis, we genotyped three SNPs at miRNA binding sites of miRNA processing genes (r... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
Finally, we observed that homozygous CC genotype of DICER1, rs1057035, was significantly associated ... DisGeNET Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... DisGeNET Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas... 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
rs1057035 dbSNP
Genome
hg19
Position
chr14:95,554,142-95,554,142
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1057035
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1146
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1921
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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