NM_000054.7(AVPR2):c.313T>G (p.Phe105Val) AND Diabetes insipidus, nephrogenic, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2000
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:: RCV000011598.3

Allele description [Variation Report for NM_000054.7(AVPR2):c.313T>G (p.Phe105Val)]

NM_000054.7(AVPR2):c.313T>G (p.Phe105Val)

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.313T>G (p.Phe105Val)

HGVS:

NC_000023.11:g.153905819T>G
NG_008687.1:g.5846T>G
NG_013220.1:g.25442A>C
NM_000054.7:c.313T>GMANE SELECT
NM_001146151.3:c.313T>G
NP_000045.1:p.Phe105Val
NP_001139623.1:p.Phe105Val
LRG_716t1:c.313T>G
LRG_716:g.5846T>G
LRG_716p1:p.Phe105Val
NC_000023.10:g.153171273T>G
P30518:p.Phe105Val

Protein change:

F105V; PHE105VAL

Links:

UniProtKB: P30518#VAR_015315; OMIM: 300538.0017; dbSNP: rs104894758

NCBI 1000 Genomes Browser:

rs104894758

Molecular consequence:

NM_000054.7:c.313T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001146151.3:c.313T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Diabetes insipidus, nephrogenic, X-linked
Synonyms:: Diabetes insipidus nephrogenic type 1; Nephrogenic Diabetes Insipidus, Type I
Identifiers:: MONDO: MONDO:0010581; MedGen: C1563705; Orphanet: 223; OMIM: 304800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031830	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2000)	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

SCV000031830

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2000)

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

Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jääskeläinen J, Grüters A, Filler G, Schöneberg T.

J Clin Endocrinol Metab. 2000 Apr;85(4):1703-10.

PubMed [citation]

PMID:: 10770218

Details of each submission

From OMIM, SCV000031830.2

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

Description

In a patient with X-linked nephrogenic diabetes insipidus (NDI1; 304800), Pasel et al. (2000) identified a mutation in the AVPR2 gene, resulting in a phe105-to-val (F105V) substitution in a highly conserved extracellular domain of the protein. Functional expression studies showed that the F105V mutant protein was delivered to the cell surface and displayed an unchanged maximum cAMP response; however, impaired ligand-binding abilities of the mutant protein were reflected in a shifted concentration-response curve toward higher vasopressin concentrations.

#	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

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