chr10:8062245:C>A Detail (hg38) (GATA3)

Information

Genome

Assembly Position
hg19 chr10:8,104,208-8,104,208 View the variant detail on this assembly version.
hg38 chr10:8,062,245-8,062,245

HGVS

Type Transcript Protein
RefSeq NM_002051.2:c.779-1751C>A
NM_001002295.1:c.779-1748C>A
Ensemble ENST00000346208.4:c.779-1751C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.300
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 131320 OMIM
HGNC 4172 HGNC
Ensembl ENSG00000107485 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv38302634 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2020-09-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Precursor Cell Lymphoblastic Leukemia Lymphoma A genome-wide association study of susceptibility to acute lymphoblastic leukemi... GWASCAT 25468567 Detail
0.001 Leukemia, Lymphocytic, Acute, L1 The rs3824662 risk allele was associated with somatic lesions underlying Ph-like... BeFree 24141364 Detail
0.125 Precursor Cell Lymphoblastic Leukemia Lymphoma Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphob... GWASCAT 23996088 Detail
0.125 Leukemia, Lymphocytic, Acute, L1 The rs3824662 risk allele was associated with somatic lesions underlying Ph-like... BeFree 24141364 Detail
0.045 Acute lymphocytic leukemia The rs10828317 association was shown to be specifically associated with hyperdip... BeFree 23996088 Detail
0.197 Precursor Cell Lymphoblastic Leukemia Lymphoma The rs10828317 association was shown to be specifically associated with hyperdip... BeFree 23996088 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001002295.2(GATA3):c.779-1748C>A AND not provided ClinVar Detail
A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and... DisGeNET Detail
The rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrang... DisGeNET Detail
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and ... DisGeNET Detail
The rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrang... DisGeNET Detail
The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas th... DisGeNET Detail
The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas th... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3824662 dbSNP
Genome
hg38
Position
chr10:8,062,245-8,062,245
Variant Type
snv
Reference Allele
C
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))
rs3824662
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2999
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5027
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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