chr11:5226924:A>G Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,154-5,248,154 View the variant detail on this assembly version.
hg38 chr11:5,226,924-5,226,924

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.92+6T>C
Ensemble ENST00000335295.4:c.92+6T>C
ENST00000485743.1:c.92+6T>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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 141900 OMIM
HGNC 4827 HGNC
Ensembl ENSG00000244734 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1982-04-15 no assertion criteria provided Beta-plus-thalassemia germline Detail
Pathogenic Likely pathogenic 2023-02-02 criteria provided, multiple submitters, no conflicts beta thalassemia de novo germline unknown Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,alpha thalassemia,Malaria, susceptibility to unknown Detail
Conflicting interpretations of pathogenicity 2017-10-09 criteria provided, conflicting interpretations Hb SS disease germline Detail
Uncertain significance 2017-10-09 criteria provided, single submitter Fetal hemoglobin quantitative trait locus 1 germline Detail
Uncertain significance 2017-10-09 criteria provided, single submitter germline Detail
Pathogenic 2022-05-04 criteria provided, single submitter Heinz body anemia germline Detail
Pathogenic 2015-07-22 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic 2024-03-25 criteria provided, single submitter Malaria, susceptibility to germline Detail
Pathogenic 2023-05-12 criteria provided, single submitter HBB-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.287 alpha-Thalassemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.92+6T>C AND Beta-plus-thalassemia ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND not provided ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND Fetal hemoglobin quantitative trait locus 1 ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND Hemoglobin E ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND Heinz body anemia ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND Inborn genetic diseases ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND Malaria, susceptibility to ClinVar Detail
NM_000518.5(HBB):c.92+6T>C AND HBB-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs35724775 dbSNP
Genome
hg38
Position
chr11:5,226,924-5,226,924
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8614
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)
121308
Allele Counts in All Race (ExAC)
18
Heterozygous Counts in All Race (ExAC)
18
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.483826293401919E-4
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