NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) AND Autosomal dominant pseudohypoaldosteronism type 1

Clinical significance:Pathogenic (Last evaluated: Jul 1, 1998)

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:
RCV000009086.3

Allele description [Variation Report for NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)]

NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)

Gene:
NR3C2:nuclear receptor subfamily 3 group C member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.23
Genomic location:
Preferred name:
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)
HGVS:
  • NC_000004.12:g.148435252G>A
  • NG_013350.1:g.12269C>T
  • NM_000901.5:c.1609C>TMANE SELECT
  • NM_001166104.2:c.1609C>T
  • NM_001354819.1:c.1609C>T
  • NP_000892.2:p.Arg537Ter
  • NP_001159576.1:p.Arg537Ter
  • NP_001341748.1:p.Arg537Ter
  • NC_000004.11:g.149356404G>A
  • NM_000901.4:c.1609C>T
  • NR_148974.2:n.1866C>T
Protein change:
R537*; ARG537TER
Links:
OMIM: 600983.0003; dbSNP: rs121912562
NCBI 1000 Genomes Browser:
rs121912562
Molecular consequence:
  • NR_148974.2:n.1866C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000901.5:c.1609C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166104.2:c.1609C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354819.1:c.1609C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal dominant pseudohypoaldosteronism type 1
Synonyms:
Pseudohypoaldosteronism, Type I, Autosomal Dominant; PHA I, AUTOSOMAL DOMINANT; Pseudohypoaldosteronism, Type I, Dominant
Identifiers:
MONDO: MONDO:0008329; MedGen: C1449842; Orphanet: 171871; Orphanet: 756; OMIM: 177735

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029303OMIMno assertion criteria providedPathogenic
(Jul 1, 1998)
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

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.

Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP.

Nat Genet. 1998 Jul;19(3):279-81.

PubMed [citation]
PMID:
9662404

Details of each submission

From OMIM, SCV000029303.1

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

Description

In multiple subjects affected with type I pseudohypoaldosteronism (177735) in each of 2 presumably unrelated families, Geller et al. (1998) found heterozygosity for a C-to-T transition that converted codon 537 from CGA (arg) to TGA (stop).

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

Last Updated: Oct 7, 2021

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