chr11:36593952:G>A Detail (hg38) (RAG2)

Information

Genome

Assembly Position
hg19 chr11:36,615,502-36,615,502 View the variant detail on this assembly version.
hg38 chr11:36,593,952-36,593,952

HGVS

Type Transcript Protein
RefSeq NM_000536.3:c.217C>T NP_000527.2:p.Arg73Cys
Ensemble ENST00000311485.8:c.217C>T ENST00000311485.8:p.Arg73Cys
ENST00000527033.6:c.217C>T ENST00000527033.6:p.Arg73Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 179616 OMIM
HGNC 9832 HGNC
Ensembl ENSG00000175097 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42206864 TogoVar
COSMIC COSM428958 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-09 criteria provided, single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive,Combined immunodeficiency with skin granulomas germline Detail
Pathogenic 2023-10-09 criteria provided, single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive,Combined immunodeficiency with skin granulomas germline Detail
Likely pathogenic 2021-06-03 criteria provided, single submitter Severe combined immunodeficiency disease germline Detail
Likely pathogenic 2020-08-04 no assertion criteria provided Histiocytic medullary reticulosis germline Detail
Likely pathogenic 2023-11-14 reviewed by expert panel recombinase activating gene 2 deficiency germline unknown Detail
Likely pathogenic 2023-10-29 criteria provided, single submitter Combined immunodeficiency with skin granulomas unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.139 severe combined immunodeficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) AND Severe combined immunodeficiency disease ClinVar Detail
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) AND Histiocytic medullary reticulosis ClinVar Detail
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) AND Recombinase activating gene 2 deficiency ClinVar Detail
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) AND Combined immunodeficiency with skin granulomas ClinVar Detail
NA 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
rs193922574 dbSNP
Genome
hg38
Position
chr11:36,593,952-36,593,952
Variant Type
snv
Reference Allele
G
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))
rs193922574
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8650
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)
121396
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4712511120630005E-5
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