NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro) 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:: RCV000009096.3

Allele description [Variation Report for NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro)]

NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro)

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.2936T>C (p.Leu979Pro)

HGVS:

NC_000004.12:g.148081363A>G
NG_013350.1:g.366159T>C
NM_000901.5:c.2936T>CMANE SELECT
NM_001166104.2:c.2585T>C
NM_001354819.1:c.2585T>C
NP_000892.2:p.Leu979Pro
NP_001159576.1:p.Leu862Pro
NP_001341748.1:p.Leu862Pro
NC_000004.11:g.149002514A>G
NR_148974.2:n.2697T>C

Protein change:

L862P; LEU979PRO

Links:

OMIM: 600983.0013; dbSNP: rs121912567

NCBI 1000 Genomes Browser:

rs121912567

Molecular consequence:

NM_000901.5:c.2936T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001166104.2:c.2585T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354819.1:c.2585T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_148974.2:n.2697T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029313	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029313

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2003)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000029313.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a proband and her mother with pseudohypoaldosteronism type I (PHA1A; 177735), Sartorato et al. (2003) found a T-to-C transition at nucleotide 3158 in exon 9 of the MR gene, resulting in a leu-to-pro change at codon 979 (L979P) in the ligand-binding domain. L979P was shown to exert a transdominant-negative effect on wildtype MR activity, and mutant protein demonstrated no aldosterone-binding activity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine