chr8:142915123:T>C Detail (hg38) (CYP11B2, LOC106799834)

Information

Genome

Assembly Position
hg19 chr8:143,996,539-143,996,539 View the variant detail on this assembly version.
hg38 chr8:142,915,123-142,915,123

HGVS

Type Transcript Protein
RefSeq NM_000498.3:c.518A>G NP_000489.3:p.Lys173Arg
Ensemble ENST00000323110.2:c.518A>G ENST00000323110.2:p.Lys173Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.349
ToMMo:0.349
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.293

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 124080 OMIM
HGNC 2592 HGNC
Ensembl ENSG00000179142 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35057683 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-07-01 criteria provided, multiple submitters, no conflicts Corticosterone 18-monooxygenase deficiency germline Detail
Benign 2017-04-27 criteria provided, single submitter glucocorticoid-remediable aldosteronism germline Detail
Benign 2021-07-01 criteria provided, multiple submitters, no conflicts Corticosterone methyloxidase type 2 deficiency germline Detail
Benign 2016-03-21 criteria provided, single submitter not specified germline Detail
Benign 2019-08-23 no assertion criteria provided Corticosterone methyl oxidase type II deficiency germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-08-29 criteria provided, single submitter Corticosterone 18-monooxygenase deficiency,Corticosterone methyloxidase type 2 deficiency unknown Detail
Benign 2021-08-29 criteria provided, single submitter Corticosterone 18-monooxygenase deficiency,Corticosterone methyloxidase type 2 deficiency unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.363 Hypertensive disease Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin ... BeFree 10720581 Detail
0.143 Hypertensive disease Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin ... BeFree 10720581 Detail
<0.001 High altitude pulmonary edema The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T po... BeFree 17987391 Detail
0.002 High altitude pulmonary edema The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T po... BeFree 17987391 Detail
0.005 adenoma Association of Lys173Arg polymorphism with CYP11B2 expression in normal adrenal ... BeFree 16118341 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND Corticosterone 18-monooxygenase deficiency ClinVar Detail
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND Glucocorticoid-remediable aldosteronism ClinVar Detail
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND Corticosterone methyloxidase type 2 deficiency ClinVar Detail
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND not specified ClinVar Detail
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND Corticosterone methyl oxidase type II deficiency ClinVar Detail
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND not provided ClinVar Detail
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND multiple conditions ClinVar Detail
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) AND multiple conditions ClinVar Detail
Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension. DisGeNET Detail
Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension. DisGeNET Detail
The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T polymorphisms were sig... DisGeNET Detail
The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T polymorphisms were sig... DisGeNET Detail
Association of Lys173Arg polymorphism with CYP11B2 expression in normal adrenal glands and aldostero... 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
rs4539 dbSNP
Genome
hg38
Position
chr8:142,915,123-142,915,123
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
# of samples (HGVD)
1133
Mean of sample read depth (HGVD)
193.99
Standard deviation of sample read depth (HGVD)
80.53
Number of reference allele (HGVD)
1476
Number of alternative allele (HGVD)
790
Allele Frequency (HGVD)
0.34863195057369817
Gene Symbol (HGVD)
CYP11B2
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))
rs4539
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.349
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5849
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8472
East Asian Allele Counts (ExAC)
2482
East Asian Heterozygous Counts (ExAC)
1796
East Asian Homozygous Counts (ExAC)
343
East Asian Allele Frequency (ExAC)
0.29296506137865913
Chromosome Counts in All Race (ExAC)
118230
Allele Counts in All Race (ExAC)
49524
Heterozygous Counts in All Race (ExAC)
28352
Homozygous Counts in All Race (ExAC)
10586
Allele Frequency in All Race (ExAC)
0.41887845724435424
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