chr6:32039081:C>G Detail (hg38) (CYP21A2, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,006,858-32,006,858 View the variant detail on this assembly version.
hg38 chr6:32,039,081-32,039,081

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.203-13C>G
ENST00000644719.2:c.293-13C>G
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.013
ToMMo:0.003
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv24809668 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
Pathogenic combined 21-hydroxylase deficiency (21-OHD) germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic CHARGE syndrome (CS) germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-04-04 criteria provided, multiple submitters, no conflicts Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline maternal not provided paternal unknown Detail
Pathogenic 2016-04-22 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-01-26 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2020-01-08 criteria provided, single submitter germline Detail
Pathogenic 2018-10-19 criteria provided, single submitter germline Detail
Pathogenic 2020-06-18 criteria provided, single submitter congenital adrenal hyperplasia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.293-13C>G AND Classic congenital adrenal hyperplasia due to 21-hydroxylase de... ClinVar Detail
NM_000500.9(CYP21A2):c.293-13C>G AND Inborn genetic diseases ClinVar Detail
NM_000500.9(CYP21A2):c.293-13C>G AND not provided ClinVar Detail
NM_000500.9(CYP21A2):c.293-13C>G AND Adrenal hyperplasia ClinVar Detail
NM_000500.9(CYP21A2):c.293-13C>G AND Abnormality of the female genitalia ClinVar Detail
NM_000500.9(CYP21A2):c.293-13C>G AND Congenital adrenal hyperplasia ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6467 dbSNP
Genome
hg38
Position
chr6:32,039,081-32,039,081
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
797
Mean of sample read depth (HGVD)
62.78
Standard deviation of sample read depth (HGVD)
32.24
Number of reference allele (HGVD)
523
Number of alternative allele (HGVD)
7
Allele Frequency (HGVD)
0.013207547169811321
Gene Symbol (HGVD)
CYP21A2
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))
rs6467
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0026
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
43
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
6524
East Asian Allele Counts (ExAC)
11
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0016860821581851624
Chromosome Counts in All Race (ExAC)
87414
Allele Counts in All Race (ExAC)
206
Heterozygous Counts in All Race (ExAC)
71
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.002356601917313016
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