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NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2001
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000012957.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)]

NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)

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.1280G>A (p.Arg427His)
Other names:
R426H
HGVS:
  • NC_000006.12:g.32040926G>A
  • NG_007941.3:g.7622G>A
  • NG_008337.2:g.73449C>T
  • NG_045215.1:g.3155G>A
  • NM_000500.9:c.1280G>AMANE SELECT
  • NM_001128590.4:c.1190G>A
  • NM_001368143.2:c.875G>A
  • NM_001368144.2:c.875G>A
  • NP_000491.4:p.Arg427His
  • NP_001122062.3:p.Arg397His
  • NP_001355072.1:p.Arg292His
  • NP_001355073.1:p.Arg292His
  • LRG_829t1:c.1280G>A
  • LRG_829:g.7622G>A
  • LRG_829p1:p.Arg427His
  • NC_000006.11:g.32008703G>A
  • NM_000500.7:c.1280G>A
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
R292H; ARG426HIS
Links:
OMIM: 613815.0026; dbSNP: rs151344504
NCBI 1000 Genomes Browser:
rs151344504
Molecular consequence:
  • NM_000500.9:c.1280G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.4:c.1190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.2:c.875G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.2:c.875G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000033201OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2001) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.

Baumgartner-Parzer SM, Schulze E, Waldhäusl W, Pauschenwein S, Rondot S, Nowotny P, Meyer K, Frisch H, Waldhauser F, Vierhapper H.

J Clin Endocrinol Metab. 2001 Oct;86(10):4771-5.

PubMed [citation]
PMID:
11600539

Details of each submission

From OMIM, SCV000033201.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a female index patient and her 2 sisters presenting with classical congenital adrenal hyperplasia and severe genital virilization (201910), Baumgartner-Parzer et al. (2001) found hemizygosity for an arg426-to-his (R426H) mutation in the maternal CYP21B gene, resulting from a G-to-A transition in exon 10. The patients were compound heterozygous for a large gene deletion of the CYP21B (paternal) and CYP21A (maternal) genes. One of the 3 sisters had given birth to a daughter who was a clinically asymptomatic carrier of the R426H mutation. In vitro expression experiments showed the R426H mutant to exhibit only low enzyme activity toward the natural substrate 17-hydroxyprogesterone.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024