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NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter) AND Autosomal dominant pseudohypoaldosteronism type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2003
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:
RCV000009093.3

Allele description [Variation Report for NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter)]

NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter)

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.1935C>A (p.Cys645Ter)
HGVS:
  • NC_000004.12:g.148194825G>T
  • NG_013350.1:g.252697C>A
  • NM_000901.5:c.1935C>AMANE SELECT
  • NM_001166104.2:c.1935C>A
  • NM_001354819.1:c.1935C>A
  • NP_000892.2:p.Cys645Ter
  • NP_001159576.1:p.Cys645Ter
  • NP_001341748.1:p.Cys645Ter
  • NC_000004.11:g.149115976G>T
  • NR_148974.2:n.2192C>A
Protein change:
C645*; CYS645TER
Links:
OMIM: 600983.0010; dbSNP: rs121912564
NCBI 1000 Genomes Browser:
rs121912564
Molecular consequence:
  • NR_148974.2:n.2192C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000901.5:c.1935C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166104.2:c.1935C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354819.1:c.1935C>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029310OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2003) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, Abadie V, Di Battista E, Naselli A, Racine A, Bosio M, Caprio M, Poulet-Young V, Chabrolle JP, Niaudet P, De Gennes C, Lecornec MH, Poisson E, Fusco AM, Loli P, Lombès M, Zennaro MC.

J Clin Endocrinol Metab. 2003 Jun;88(6):2508-17.

PubMed [citation]
PMID:
12788847

Details of each submission

From OMIM, SCV000029310.2

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

Description

In a patient with pseudohypoaldosteronism type I (PHA1A; 177735), Sartorato et al. (2003) found a C-to-A transversion at nucleotide 2157 in exon 4 of the MR gene that caused a cys645-to-ter (C645X) truncation in the second zinc finger of the MR DNA-binding domain. The mutation was apparently sporadic.

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

Last Updated: Aug 5, 2023