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NM_000054.7(AVPR2):c.410G>T (p.Arg137Leu) AND Nephrogenic syndrome of inappropriate antidiuresis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 5, 2005
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:
RCV000011602.5

Allele description [Variation Report for NM_000054.7(AVPR2):c.410G>T (p.Arg137Leu)]

NM_000054.7(AVPR2):c.410G>T (p.Arg137Leu)

Gene:
AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000054.7(AVPR2):c.410G>T (p.Arg137Leu)
HGVS:
  • NC_000023.11:g.153905916G>T
  • NG_008687.1:g.5943G>T
  • NG_013220.1:g.25345C>A
  • NM_000054.7:c.410G>TMANE SELECT
  • NM_001146151.3:c.410G>T
  • NP_000045.1:p.Arg137Leu
  • NP_001139623.1:p.Arg137Leu
  • LRG_716t1:c.410G>T
  • LRG_716:g.5943G>T
  • LRG_716p1:p.Arg137Leu
  • NC_000023.10:g.153171370G>T
  • P30518:p.Arg137Leu
Protein change:
R137L; ARG137LEU
Links:
UniProtKB: P30518#VAR_025902; OMIM: 300538.0022; dbSNP: rs104894756
NCBI 1000 Genomes Browser:
rs104894756
Molecular consequence:
  • NM_000054.7:c.410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001146151.3:c.410G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)
Identifiers:
MONDO: MONDO:0010356; MedGen: C1845202; Orphanet: 93606; OMIM: 300539

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031834OMIM
no assertion criteria provided
Pathogenic
(May 5, 2005) 		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

Nephrogenic syndrome of inappropriate antidiuresis.

Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE.

N Engl J Med. 2005 May 5;352(18):1884-90.

PubMed [citation]
PMID:
15872203
PMCID:
PMC5340184

Details of each submission

From OMIM, SCV000031834.4

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

Description

In a male infant with a clinical picture resembling that of the syndrome of inappropriate antidiuretic hormone secretion (SIADH), but with undetectable levels of arginine vasopressin, Feldman et al. (2005) identified a 771G-T transversion in the AVPR2 gene, resulting in an arg137-to-leu (R137L) substitution in the second cytoplasmic loop of the protein. The authors termed the patient's SIADH-like clinical picture 'nephrogenic syndrome of inappropriate antidiuresis' (NSIAD; 300539). Functional expression studies showed that the R137L mutation caused constitutive activation of the receptor with high levels of cAMP. Feldman et al. (2005) noted that a loss-of-function mutation in the same codon, R137H (300358.0015), causes nephrogenic diabetes insipidus (304800), and commented that this was the first example in which mutations affecting the same amino acid cause 2 different genetic diseases.

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

Last Updated: Apr 23, 2022