NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly) AND Nephrogenic diabetes insipidus

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000029389.2

Allele description [Variation Report for NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)]

NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)

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.409C>G (p.Arg137Gly)

HGVS:

NC_000023.11:g.153905915C>G
NG_008687.1:g.5942C>G
NG_013220.1:g.25346G>C
NM_000054.7:c.409C>GMANE SELECT
NM_001146151.3:c.409C>G
NP_000045.1:p.Arg137Gly
NP_001139623.1:p.Arg137Gly
LRG_716t1:c.409C>G
LRG_716:g.5942C>G
LRG_716p1:p.Arg137Gly
NC_000023.10:g.153171369C>G
NM_000054.4:c.409C>G

Protein change:

R137G

Links:

dbSNP: rs104894761

NCBI 1000 Genomes Browser:

rs104894761

Molecular consequence:

NM_000054.7:c.409C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001146151.3:c.409C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Nephrogenic diabetes insipidus
Synonyms:: Vasopressin-resistant diabetes insipidus; ADH resistant diabetes insipidus; Diabetes insipidus nephrogenic X-linked
Identifiers:: MONDO: MONDO:0016383; MedGen: C0162283; Human Phenotype Ontology: HP:0009806

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052037	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	likely pathogenic (Aug 18, 2011)	germline	curation, clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052037

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

likely pathogenic
(Aug 18, 2011)

germline

curation, clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	1	not provided	curation

Citations

PubMed

Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.

Faerch M, Christensen JH, Rittig S, Johansson JO, Gregersen N, de Zegher F, Corydon TJ.

Am J Physiol Renal Physiol. 2009 Dec;297(6):F1518-25. doi: 10.1152/ajprenal.00331.2009. Epub 2009 Oct 7.

PubMed [citation]

PMID:: 19812297

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052037.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	curation	PubMed (1)
2	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

"Authors report this as a novel variant associated with a complete clinical phenotype-NDI; controls not tested; in vitro functional defect (see aFXN)": PubMed [ID: 19812297]

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 2

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2	Homozygote	AVPR2:c.26-6T>G	1

Last Updated: Apr 23, 2022

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