NM_000054.7(AVPR2):c.102del (p.Leu35fs) AND Diabetes insipidus, nephrogenic, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 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:: RCV000011595.9

Allele description [Variation Report for NM_000054.7(AVPR2):c.102del (p.Leu35fs)]

NM_000054.7(AVPR2):c.102del (p.Leu35fs)

Gene:

AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000054.7(AVPR2):c.102del (p.Leu35fs)

HGVS:

NC_000023.11:g.153905608del
NG_008687.1:g.5635del
NG_013220.1:g.25653del
NM_000054.7:c.102delMANE SELECT
NM_001146151.3:c.102del
NP_000045.1:p.Leu35fs
NP_001139623.1:p.Leu35fs
LRG_716t1:c.102del
LRG_716:g.5635del
LRG_716p1:p.Leu35fs
NC_000023.10:g.153171062del
NM_000054.4:c.102delG

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

L35fs

Links:

OMIM: 300538.0014; dbSNP: rs1569545523

NCBI 1000 Genomes Browser:

rs1569545523

Molecular consequence:

NM_000054.7:c.102del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001146151.3:c.102del - frameshift variant - [Sequence Ontology: SO:0001589]

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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G6PC2 [Panthera tigris]
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031827	OMIM	no assertion criteria provided	Pathogenic (Jan 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

SCV000031827

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1998)

germline

literature only

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

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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

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

Schöneberg T, Schulz A, Biebermann H, Grüters A, Grimm T, Hübschmann K, Filler G, Gudermann T, Schultz G.

Hum Mutat. 1998;12(3):196-205.

PubMed [citation]

PMID:: 9711877

Details of each submission

From OMIM, SCV000031827.4

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

Description

In affected members of a Russian family with nephrogenic diabetes insipidus (NDI1; 304800), Schoneberg et al. (1998) identified a 1-bp deletion (102delG) in the AVPR2 gene, resulting in a frameshift and a truncated receptor protein. The premature termination led to a drastically reduced receptor protein expression in transfected COS-7 cells and precluded specific AVPR2 functions.

#	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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