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NM_000500.9(CYP21A2):c.85dup (p.His29fs) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 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:
RCV000012958.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.85dup (p.His29fs)]

NM_000500.9(CYP21A2):c.85dup (p.His29fs)

Genes:
LOC106780800:CYP21A2 recombination region [Gene]
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_000500.9(CYP21A2):c.85dup (p.His29fs)
HGVS:
  • NC_000006.12:g.32038507dup
  • NG_007941.3:g.5203dup
  • NG_045215.1:g.736dup
  • NG_055451.1:g.5183dup
  • NM_000500.9:c.85dupMANE SELECT
  • NM_001128590.4:c.85dup
  • NM_001368143.2:c.-340dup
  • NM_001368144.2:c.-250dup
  • NP_000491.4:p.His29fs
  • NP_001122062.3:p.His29fs
  • LRG_829t1:c.85dup
  • LRG_829:g.5203dup
  • LRG_829p1:p.His29fs
  • NC_000006.11:g.32006284dup
  • NM_000500.7:c.85dupC
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
H29fs
Links:
OMIM: 613815.0027; dbSNP: rs1582299448
NCBI 1000 Genomes Browser:
rs1582299448
Molecular consequence:
  • NM_001368143.2:c.-340dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368144.2:c.-250dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000500.9:c.85dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128590.4:c.85dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000033202OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2001) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency.

de-Araujo M, Sanches MR, Suzuki LA, Guerra G Jr, Farah SB, de-Mello MP.

Braz J Med Biol Res. 1996 Jan;29(1):1-13. Review.

PubMed [citation]
PMID:
8731325

Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.

Paulino LC, Araujo M, Guerra G Jr, Marini SH, De Mello MP.

Acta Paediatr. 1999 Mar;88(3):275-83.

PubMed [citation]
PMID:
10229037
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000033202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Genotyping of 41 Brazilian patients with the classical form of 21-hydroxylase deficiency revealed 64% microconversion, whereas deletions and large gene conversions accounted for up to 21% of the molecular defect (Araujo et al., 1996; Paulino et al., 1999). Lau et al. (2001) reported a novel mutation disclosed by sequencing the entire CYP21 gene of a patient in whom no pseudogene-originated mutation had been found. The patient, who had the classical form of 21-hydroxylase deficiency (201910), was the daughter of a consanguineous marriage; she was homozygous for a novel frameshift, an insertion of a cytosine between nucleotides 82 and 83, within exon 1. The mutation caused conversion of codon 28 from histidine to proline and premature termination at amino acid 78.

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

Last Updated: Apr 23, 2022