NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del) AND Apparent mineralocorticoid excess

Clinical significance:Pathogenic (Last evaluated: May 1, 2004)

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:
RCV000012884.4

Allele description [Variation Report for NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del)]

NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del)

Gene:
HSD11B2:hydroxysteroid 11-beta dehydrogenase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del)
HGVS:
  • NC_000016.10:g.67436680_67436682del
  • NG_011482.1:g.49507_49509del
  • NG_016549.1:g.10548_10550del
  • NM_000196.4:c.895_897delMANE SELECT
  • NP_000187.3:p.Tyr299del
  • NP_000187.3:p.Tyr299del
  • NC_000016.9:g.67470583_67470585del
  • NM_000196.3:c.895_897del
Protein change:
Y299del; TYR299DEL
Links:
OMIM: 614232.0010; dbSNP: rs794726670
NCBI 1000 Genomes Browser:
rs794726670
Molecular consequence:
  • NM_000196.4:c.895_897del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Apparent mineralocorticoid excess (AME)
Synonyms:
Cortisol 11-beta-ketoreductase deficiency; AME 1
Identifiers:
MONDO: MONDO:0009025; MedGen: C3887949; Orphanet: 320; OMIM: 218030

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033125OMIMno assertion criteria providedPathogenic
(May 1, 2004)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess.

Lin-Su K, Zhou P, Arora N, Betensky BP, New MI, Wilson RC.

J Clin Endocrinol Metab. 2004 May;89(5):2024-7.

PubMed [citation]
PMID:
15126515

Details of each submission

From OMIM, SCV000033125.3

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

Description

In an 11-year-old Pakistani girl, born of consanguineous parents, with apparent mineralocorticoid excess (AME; 218030), Lin-Su et al. (2004) found homozygous deletion of the tyr299 (Y299) codon in exon 5 of the HSD11B2 gene. The patient presented at age 9 years with hypertension (225/120 mm Hg), low plasma renin activity, hypokalemic metabolic alkalosis, suppressed aldosterone, and bilateral nephrocalcinosis. She had had a low birth weight compared with her sibs. Biochemical analysis showed an elevated urinary cortisol-to-cortisone metabolites ratio (tetrahydrocortisol and 5-alpha-tetrahydrocortisol/tetrahydrocortisone) of 28 (normal, 0.66-2.44). She had a cortisol secretion rate of 0.43 mg/d (normal, 5-25 mg/d). In vitro expression in CHO cells revealed that this mutation resulted in no activity.

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

Last Updated: Oct 16, 2021

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