NM_000486.6(AQP2):c.523G>A (p.Gly175Arg) AND Diabetes insipidus, nephrogenic, autosomal

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 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:: RCV000019413.30

Allele description [Variation Report for NM_000486.6(AQP2):c.523G>A (p.Gly175Arg)]

NM_000486.6(AQP2):c.523G>A (p.Gly175Arg)

Genes:

AQP5-AS1:AQP5 and AQP2 antisense RNA 2 [Gene - HGNC]
AQP2:aquaporin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_000486.6(AQP2):c.523G>A (p.Gly175Arg)

HGVS:

NC_000012.12:g.49954317G>A
NG_008913.1:g.8577G>A
NM_000486.6:c.523G>AMANE SELECT
NP_000477.1:p.Gly175Arg
LRG_717:g.8577G>A
NC_000012.11:g.50348100G>A
NR_110590.1:n.288C>T
P41181:p.Gly175Arg

Protein change:

G175R; GLY175ARG

Links:

UniProtKB: P41181#VAR_015248; OMIM: 107777.0011; dbSNP: rs104894335

NCBI 1000 Genomes Browser:

rs104894335

Molecular consequence:

NM_000486.6:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_110590.1:n.288C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Diabetes insipidus, nephrogenic, autosomal (NDI2)
Synonyms:: Nephrogenic Diabetes Insipidus, Type II; Diabetes insipidus, nephrogenic, 2, autosomal
Identifiers:: MONDO: MONDO:0007451; MedGen: C1563706; Orphanet: 223; OMIM: 125800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039703	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 1998)	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

SCV000039703

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 1998)

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

Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S.

J Clin Endocrinol Metab. 1998 Sep;83(9):3205-9.

PubMed [citation]

PMID:: 9745427

Details of each submission

From OMIM, SCV000039703.4

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

Description

For discussion of the gly175-to-arg (G175R) mutation in the AQP2 gene that was found in compound heterozygous state in 2 sibs with autosomal recessive nephrogenic diabetes insipidus (NDI2; 125800) by Goji et al. (1998), see 107777.0010.

#	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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