NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A] AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Clinical significance:Pathogenic (Last evaluated: Aug 29, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000055823.1

Alleles description [Variation Report for NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]]

NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)

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.713T>A (p.Val238Glu)
HGVS:
  • NC_000006.12:g.32039810T>A
  • NG_007941.3:g.6506T>A
  • NG_008337.2:g.74565A>T
  • NG_045215.1:g.2039T>A
  • NM_000500.9:c.713T>A
  • NM_001128590.3:c.623T>A
  • NM_001368143.1:c.308T>A
  • NM_001368144.1:c.308T>A
  • NP_000491.4:p.Val238Glu
  • NP_001122062.3:p.Val208Glu
  • NP_001355072.1:p.Val103Glu
  • NP_001355073.1:p.Val103Glu
  • NC_000006.11:g.32007587T>A
  • NG_007941.2:g.6503T>A
  • NM_000500.5:c.713T>A
Protein change:
V103E; VAL237GLU
Links:
OMIM: 613815.0016; dbSNP: rs12530380
NCBI 1000 Genomes Browser:
rs12530380
Molecular consequence:
  • NM_000500.9:c.713T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.3:c.623T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.1:c.308T>A - missense variant - [Sequence Ontology: SO:0001583]

NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)

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.719T>A (p.Met240Lys)
HGVS:
  • NC_000006.12:g.32039816T>A
  • NG_007941.3:g.6512T>A
  • NG_008337.2:g.74559A>T
  • NG_045215.1:g.2045T>A
  • NM_000500.9:c.719T>A
  • NM_001128590.3:c.629T>A
  • NM_001368143.1:c.314T>A
  • NM_001368144.1:c.314T>A
  • NP_000491.4:p.Met240Lys
  • NP_001122062.3:p.Met210Lys
  • NP_001355072.1:p.Met105Lys
  • NP_001355073.1:p.Met105Lys
  • NC_000006.11:g.32007593T>A
  • NG_007941.2:g.6509T>A
  • NM_000500.5:c.719T>A
Protein change:
M105K; MET239LYS
Links:
OMIM: 613815.0016; dbSNP: rs6476
NCBI 1000 Genomes Browser:
rs6476
Molecular consequence:
  • NM_000500.9:c.719T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.3:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.1:c.314T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.1:c.314T>A - missense variant - [Sequence Ontology: SO:0001583]

NM_000500.5:c.701T>A

Gene:
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Preferred name:
NM_000500.5:c.701T>A
HGVS:

Condition(s)

Name:
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Synonyms:
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Identifiers:
MedGen: C2936858; Orphanet: 90794; OMIM: 201910

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000086807GeneReviewsno assertion criteria providedpathologic
(Aug 29, 2013)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000086807.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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