chr8:47888479:A>G Detail (hg38) (PRKDC)

Information

Genome

Assembly Position
hg19 chr8:48,801,040-48,801,040 View the variant detail on this assembly version.
hg38 chr8:47,888,479-47,888,479

HGVS

Type Transcript Protein
RefSeq NM_006904.6:c.4413+39T>C
NM_001081640.1:c.4413+39T>C
Ensemble ENST00000314191.7:c.4413+39T>C
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 Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600899 OMIM
HGNC 9413 HGNC
Ensembl ENSG00000253729 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv209016594 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-02-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.012 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.360 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.011 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.080 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.002 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.001 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006904.7(PRKDC):c.4413+39T>C AND not provided ClinVar Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs8178097 dbSNP
Genome
hg38
Position
chr8:47,888,479-47,888,479
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
656
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)
20584
Allele Counts in All Race (ExAC)
937
Heterozygous Counts in All Race (ExAC)
871
Homozygous Counts in All Race (ExAC)
33
Allele Frequency in All Race (ExAC)
0.04552079284881461
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