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NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro) 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:
RCV002069396.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)]

NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)

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.1070G>C (p.Arg357Pro)
Other names:
p.Arg357Pro
HGVS:
  • NC_000006.12:g.32040536G>C
  • NG_007941.3:g.7232G>C
  • NG_008337.2:g.73839C>G
  • NG_045215.1:g.2765G>C
  • NM_000500.9:c.1070G>CMANE SELECT
  • NM_001128590.4:c.980G>C
  • NM_001368143.2:c.665G>C
  • NM_001368144.2:c.665G>C
  • NP_000491.4:p.Arg357Pro
  • NP_001122062.3:p.Arg327Pro
  • NP_001355072.1:p.Arg222Pro
  • NP_001355073.1:p.Arg222Pro
  • LRG_829t1:c.1070G>C
  • LRG_829:g.7232G>C
  • LRG_829p1:p.Arg357Pro
  • NC_000006.11:g.32008313G>C
Protein change:
R222P
Links:
dbSNP: rs574370139
NCBI 1000 Genomes Browser:
rs574370139
Molecular consequence:
  • NM_000500.9:c.1070G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.4:c.980G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.2:c.665G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.2:c.665G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002496414Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Southeast Asian, Indiangermlineyes1not providednot providednot providednot providedclinical 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, SCV002496414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Southeast Asian, Indian1not providednot providedclinical testing PubMed (5)

Description

Found in two 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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 4, 2024