chr6:32040110:G>T Detail (hg38) (CYP21A2, TNXB, LOC106780800)

Information

Genome

Assembly Position
hg19 chr6:32,007,887-32,007,887 View the variant detail on this assembly version.
hg38 chr6:32,040,110-32,040,110

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000435122.3:c.754G>T ENST00000435122.3:p.Val252Leu
ENST00000644719.2:c.844G>T ENST00000644719.2:p.Val282Leu
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:0.002

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 tgv24809897 TogoVar
COSMIC COSM1443458 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency maternal unknown germline Detail
Pathogenic 1998-07-01 no assertion criteria provided Adenoma, cortisol-producing germline Detail
Pathogenic 1998-07-01 no assertion criteria provided Carcinoma, adrenocortical, androgen-secreting germline Detail
Pathogenic 2022-04-20 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2003-08-01 no assertion criteria provided Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency germline Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter congenital adrenal hyperplasia germline Detail
Pathogenic 2023-05-24 criteria provided, single submitter CYP21A2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.294 congenital adrenal hyperplasia To determine RCCX alterations, we used the polymerase chain reaction (PCR) produ... BeFree 21117955 Detail
<0.001 congenital adrenal hyperplasia To determine RCCX alterations, we used the polymerase chain reaction (PCR) produ... BeFree 21117955 Detail
0.018 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
0.003 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
0.008 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 pati... UNIPROT 20080860 Detail
0.042 Chronic active hepatitis We suggest that P30L mutation is more frequent in Japanese NC CAH than V281L and... BeFree 9881898 Detail
0.294 congenital adrenal hyperplasia First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adren... BeFree 18028896 Detail
0.009 polycystic ovary syndrome Lack of association between CYP21 V281L variant and polycystic ovary syndrome in... BeFree 20201644 Detail
0.155 21-hydroxylase deficiency To report a first case of 21-hydroxylase deficiency associated with a new genoty... BeFree 18028896 Detail
0.042 Chronic active hepatitis Five patients, one of whom had a normal 17-OHP response to Synacthen, were heter... BeFree 9579234 Detail
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency To report a first case of 21-hydroxylase deficiency associated with a new genoty... BeFree 18028896 Detail
0.155 21-hydroxylase deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND Classic congenital adrenal hyperplasia due to 21-hyd... ClinVar Detail
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND Adenoma, cortisol-producing ClinVar Detail
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND Carcinoma, adrenocortical, androgen-secreting ClinVar Detail
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND Inborn genetic diseases ClinVar Detail
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T] AND Classic congenital adrenal hyperplasi... ClinVar Detail
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND not provided ClinVar Detail
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND Congenital adrenal hyperplasia ClinVar Detail
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND CYP21A2-related disorder ClinVar Detail
To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the te... DisGeNET Detail
To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the te... DisGeNET Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 2... DisGeNET Detail
We suggest that P30L mutation is more frequent in Japanese NC CAH than V281L and that the frequency ... DisGeNET Detail
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form.... DisGeNET Detail
Lack of association between CYP21 V281L variant and polycystic ovary syndrome in Italian women. DisGeNET Detail
To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V28... DisGeNET Detail
Five patients, one of whom had a normal 17-OHP response to Synacthen, were heterozygous for the val ... DisGeNET Detail
To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V28... 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
rs6471 dbSNP
Genome
hg38
Position
chr6:32,040,110-32,040,110
Variant Type
snv
Reference Allele
G
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.80to99.90
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6471
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0013
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
22
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8518
East Asian Allele Counts (ExAC)
18
East Asian Heterozygous Counts (ExAC)
18
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.002113172106128199
Chromosome Counts in All Race (ExAC)
115876
Allele Counts in All Race (ExAC)
1208
Heterozygous Counts in All Race (ExAC)
1206
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.010424937001622423
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