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NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:
Likely pathogenic (2 submissions)
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:
RCV000012941.4

Allele description [Variation Report for NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)]

NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)

Genes:
LOC106780800:CYP21A2 recombination region [Gene]
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
Other names:
(p.Arg484ProfsTer58)
HGVS:
  • NC_000006.12:g.32041097_32041098delinsC
  • NG_007941.3:g.7793_7794delinsC
  • NG_008337.2:g.73277_73278delinsG
  • NG_045215.1:g.3326_3327delinsC
  • NM_000500.9:c.1451_1452delinsCMANE SELECT
  • NM_001128590.4:c.1361_1362delinsC
  • NM_001368143.2:c.1046_1047delinsC
  • NM_001368144.2:c.1046_1047delinsC
  • NP_000491.4:p.Arg484fs
  • NP_001122062.3:p.Arg454fs
  • NP_001355072.1:p.Arg349fs
  • NP_001355073.1:p.Arg349fs
  • LRG_829t1:c.1451_1452delinsC
  • LRG_829:g.7793_7794delinsC
  • LRG_829p1:p.Arg484fs
  • NC_000006.11:g.32008874_32008875delinsC
  • NM_000500.6:c.1448_1449delinsC
Protein change:
R349fs
Links:
OMIM: 613815.0008; dbSNP: rs397509367
NCBI 1000 Genomes Browser:
rs397509367
Molecular consequence:
  • NM_000500.9:c.1451_1452delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128590.4:c.1361_1362delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368143.2:c.1046_1047delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368144.2:c.1046_1047delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033183OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 1992)
germlineliterature only

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

SCV002496411Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 10, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
Southeast Asian, Indiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

Wedell A, Ritzén EM, Haglund-Stengler B, Luthman H.

Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):7232-6.

PubMed [citation]
PMID:
1496017
PMCID:
PMC49680

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
See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000033183.1

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

Description

In a patient with severe steroid 21-hydroxylase deficiency (201910), Wedell et al. (1992) identified a change of a GG dinucleotide to a C in exon 10, resulting in a frameshift at arginine-484 and a predicted protein with 57 additional amino acids in the C-terminal end.

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

From Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, SCV002496411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Southeast Asian, Indian1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024