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NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) AND Adenoma, cortisol-producing

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1998
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:
RCV000012935.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)]

NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)

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.844G>T (p.Val282Leu)
Other names:
V281L; CYP21A2*15
HGVS:
  • NC_000006.12:g.32040110G>T
  • NG_007941.3:g.6806G>T
  • NG_008337.2:g.74265C>A
  • NG_045215.1:g.2339G>T
  • NM_000500.9:c.844G>TMANE SELECT
  • NM_001128590.4:c.754G>T
  • NM_001368143.2:c.439G>T
  • NM_001368144.2:c.439G>T
  • NP_000491.4:p.Val282Leu
  • NP_001122062.3:p.Val252Leu
  • NP_001355072.1:p.Val147Leu
  • NP_001355073.1:p.Val147Leu
  • LRG_829t1:c.844G>T
  • LRG_829:g.6806G>T
  • LRG_829p1:p.Val282Leu
  • NC_000006.11:g.32007887G>T
  • NM_000500.5:c.844G>T
  • NM_000500.7:c.844G>T
  • p.Val282Leu
Protein change:
V147L; VAL281LEU
Links:
OMIM: 613815.0002; OMIM: 613815.0033; dbSNP: rs6471
NCBI 1000 Genomes Browser:
rs6471
Molecular consequence:
  • NM_000500.9:c.844G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.4:c.754G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.2:c.439G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.2:c.439G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Adenoma, cortisol-producing
Identifiers:
MedGen: C3151153

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033176OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1998) 		germlineliterature only

PubMed (7)
[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 genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.

Speiser PW, New MI, White PC.

N Engl J Med. 1988 Jul 7;319(1):19-23.

PubMed [citation]
PMID:
3260007

Clinical and genetic characterization of nonclassic 21-hydroxylase deficiency.

Speiser PW, New MI, White PC.

Endocr Res. 1989;15(1-2):257-76.

PubMed [citation]
PMID:
2788081
See all PubMed Citations (7)

Details of each submission

From OMIM, SCV000033176.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (7)

Description

In 9 patients with nonclassic 21-hydroxylase deficiency (201910) associated with HLA-B14;DR1, Speiser et al. (1988) found a change in codon 281 from GTG, encoding valine, to TTG, encoding leucine. Speiser et al. (1989) concluded that this codon 281 mutation is a consistent change in nonclassic 21-hydroxylase deficiency associated with HLA-B14;DR1. The val281-to-leu mutation (V281L), found in association with the HLA-B14;DR1 haplotype, accounts for 75 to 80% of nonclassic 21-hydroxylase deficiency (Mornet et al., 1991). This mutation was observed in several patients by Wedell et al. (1992), who referred to it as VAL282LEU.

In an analysis of steroid 21-hydroxylase gene mutations in the Spanish population, Ezquieta et al. (1995) found that the most frequent mutation causing the late onset form of disease (present in 15 of 38 patients) was val281 to leu, found in 18 of 30 chromosomes (37%). This mutation is found in 34% of all cases of the nonclassic type (White et al., 1994).

In samples from 2 patients (1 with a cortisol-producing adenoma and 1 with an androgen-secreting adrenocortical carcinoma), Beuschlein et al. (1998) detected the heterozygous germline mutation val281 to leu in exon 7.

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

Last Updated: Nov 30, 2024