chr6:32007593:T>A Detail (hg19) (CYP21A2, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,007,593-32,007,593
hg38 chr6:32,039,816-32,039,816 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.629T>A ENST00000435122.3:p.Met210Lys
ENST00000644719.2:c.719T>A ENST00000644719.2:p.Met240Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 613815 OMIM
HGNC 2600 HGNC
Ensembl ENSG00000231852 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24809831 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-04-01 no assertion criteria provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
Pathogenic 2013-08-29 no assertion criteria provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency not provided Detail
Conflicting interpretations of pathogenicity 2022-10-31 criteria provided, conflicting interpretations not provided germline Detail
Likely benign 2022-05-22 criteria provided, single submitter Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
Pathogenic 2022-09-30 criteria provided, single submitter congenital adrenal hyperplasia germline Detail
Likely benign 2023-12-07 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-10-19 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-10-19 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Detection and assignment of CYP21 mutations using peptide mass signature genotyp... UNIPROT 15110320 Detail
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A] AND Classic congenital adrenal hyperplasia due to 21-h... ClinVar Detail
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A] AND Classic congenital adrenal hyperplasia due to 21-h... ClinVar Detail
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) AND not provided ClinVar Detail
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) AND Classic congenital adrenal hyperplasia due to 21-hyd... ClinVar Detail
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A] AND Congenital adrenal hyperplasia ClinVar Detail
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) AND not specified ClinVar Detail
NM_000500.9(CYP21A2):c.[710T>A;719T>A] AND not specified ClinVar Detail
NM_000500.9(CYP21A2):c.[713T>A;719T>A] AND not specified ClinVar Detail
Detection and assignment of CYP21 mutations using peptide mass signature genotyping. DisGeNET 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
rs6476 dbSNP
Genome
hg19
Position
chr6:32,007,593-32,007,593
Variant Type
snv
Reference Allele
T
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.60to99.80
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6476
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8234
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)
112388
Allele Counts in All Race (ExAC)
160
Heterozygous Counts in All Race (ExAC)
158
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0014236395344698722
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