NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002211045.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys)]

NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys)

Genes:

LOC106780800:CYP21A2 recombination region [Gene]
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys)

Other names:

p.Arg125Cys

HGVS:

NC_000006.12:g.32039174C>T
NG_007941.3:g.5870C>T
NG_008337.2:g.75201G>A
NG_045215.1:g.1403C>T
NM_000500.9:c.373C>TMANE SELECT
NM_001128590.4:c.283C>T
NM_001368143.2:c.-33C>T
NM_001368144.2:c.-33C>T
NP_000491.4:p.Arg125Cys
NP_001122062.3:p.Arg95Cys
LRG_829t1:c.373C>T
LRG_829:g.5870C>T
LRG_829p1:p.Arg125Cys
NC_000006.11:g.32006951C>T

Protein change:

R125C

Links:

dbSNP: rs371412889

NCBI 1000 Genomes Browser:

rs371412889

Molecular consequence:

NM_001368143.2:c.-33C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001368144.2:c.-33C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000500.9:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128590.4:c.283C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Synonyms:: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; CYP21 deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Identifiers:: MONDO: MONDO:0008728; MedGen: C2936858; Orphanet: 90794; OMIM: 201910

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002496416	Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 10, 2021)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 23359698, 33552137, 30611409, 29035424, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002496416

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 10, 2021)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Southeast Asian, Indian	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T.

Proc Natl Acad Sci U S A. 2013 Feb 12;110(7):2611-6. doi: 10.1073/pnas.1300057110. Epub 2013 Jan 28.

PubMed [citation]

PMID:: 23359698
PMCID:: PMC3574953

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.

Wang X, Wang Y, Ma D, Zhang Z, Li Y, Yang P, Sun Y, Jiang T.

Front Genet. 2020;11:623125. doi: 10.3389/fgene.2020.623125.

PubMed [citation]

PMID:: 33552137
PMCID:: PMC7862715

See all PubMed Citations (5)

Details of each submission

From Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, SCV002496416.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Southeast Asian, Indian	2	not provided	not provided	clinical testing	PubMed (5)

Description

Found in two Simple virilizing CAH patients; one had this variant with full gene deletion and other was found in trans with with c.515T>A variant of CYP21A2 gene

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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