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NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1997
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:
RCV000012954.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)]

NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)

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.1143G>C (p.Glu381Asp)
Other names:
E380D
HGVS:
  • NC_000006.12:g.32040692G>C
  • NG_007941.3:g.7388G>C
  • NG_008337.2:g.73683C>G
  • NG_045215.1:g.2921G>C
  • NM_000500.9:c.1143G>CMANE SELECT
  • NM_001128590.4:c.1053G>C
  • NM_001368143.2:c.738G>C
  • NM_001368144.2:c.738G>C
  • NP_000491.4:p.Glu381Asp
  • NP_001122062.3:p.Glu351Asp
  • NP_001355072.1:p.Glu246Asp
  • NP_001355073.1:p.Glu246Asp
  • LRG_829t1:c.1143G>C
  • LRG_829:g.7388G>C
  • LRG_829p1:p.Glu381Asp
  • NC_000006.11:g.32008469G>C
  • NM_000500.7:c.1143G>C
Protein change:
E246D; GLU380ASP
Links:
OMIM: 613815.0023
Molecular consequence:
  • NM_000500.9:c.1143G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.4:c.1053G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.2:c.738G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.2:c.738G>C - 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
SCV000033198OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1997) 		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

E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Kirby-Keyser L, Porter CC, Donohoue PA.

Hum Mutat. 1997;9(2):181-2. No abstract available.

PubMed [citation]
PMID:
9067760

Details of each submission

From OMIM, SCV000033198.1

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

Description

In an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency (201910), Kirby-Keyser et al. (1997) demonstrated homozygosity for an E380D mutation in the CYP21 gene. Both parents and 1 sib were heterozygous for this mutation. E380D had not been identified in any pseudogenes, suggesting that the mutation had arisen through conventional means and not by gene conversion or similar mechanisms related to the neighboring pseudogene.

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

Last Updated: Jun 24, 2023