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NM_000901.5(NR3C2):c.1004del (p.Ser335fs) AND Autosomal dominant pseudohypoaldosteronism type 1

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:
RCV000009084.3

Allele description [Variation Report for NM_000901.5(NR3C2):c.1004del (p.Ser335fs)]

NM_000901.5(NR3C2):c.1004del (p.Ser335fs)

Gene:
NR3C2:nuclear receptor subfamily 3 group C member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q31.23
Genomic location:
Preferred name:
NM_000901.5(NR3C2):c.1004del (p.Ser335fs)
HGVS:
  • NC_000004.12:g.148435857del
  • NG_013350.2:g.14651del
  • NM_000901.5:c.1004delMANE SELECT
  • NM_001166104.2:c.1004del
  • NM_001354819.1:c.1004del
  • NP_000892.2:p.Ser335fs
  • NP_001159576.1:p.Ser335fs
  • NP_001341748.1:p.Ser335fs
  • NC_000004.11:g.149357009del
  • NG_013350.1:g.11664del
  • NR_148974.2:n.1261del
Note:
NCBI staff provided HGVS expressions for allelic variant 600983.0001 based on the sequence reported in Figure 1 of the paper by Geller et al., 1998 (PubMed 9662404).
Protein change:
S335fs
Links:
OMIM: 600983.0001
Molecular consequence:
  • NM_000901.5:c.1004del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001166104.2:c.1004del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354819.1:c.1004del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_148974.2:n.1261del - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029301OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1998) 		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

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, SCV000029301.2

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

Description

In a sporadic case of type I pseudohypoaldosteronism (PHA1A; 177735), Geller et al. (1998) found heterozygosity for a de novo single-bp deletion, introducing a frameshift at codon 335 and resulting in premature termination at codon 337.

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

Last Updated: Aug 5, 2023