NM_000054.7(AVPR2):c.738dup (p.Arg247fs) AND Diabetes insipidus, nephrogenic, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 1997
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:: RCV000011594.4

Allele description [Variation Report for NM_000054.7(AVPR2):c.738dup (p.Arg247fs)]

NM_000054.7(AVPR2):c.738dup (p.Arg247fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000054.7(AVPR2):c.738dup (p.Arg247fs)

HGVS:

NC_000023.11:g.153906244dup
NG_008687.1:g.6271dup
NG_013220.1:g.25022dup
NM_000054.7:c.738dupMANE SELECT
NM_001146151.3:c.738dup
NP_000045.1:p.Arg247fs
NP_001139623.1:p.Arg247fs
LRG_716t1:c.738dup
LRG_716:g.6271dup
LRG_716p1:p.Arg247fs
NC_000023.10:g.153171698dup
NR_027419.2:n.691dup

Note:

NCBI staff provided an HGVS expression for allelic variant 300538.0013 from the sequence reported in Figure 1 of the paper by Nomura et al., 1997 (PubMed 9329382).

Protein change:

R247fs

Links:

OMIM: 300538.0013; dbSNP: rs781942628

NCBI 1000 Genomes Browser:

rs781942628

Molecular consequence:

NM_000054.7:c.738dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001146151.3:c.738dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027419.2:n.691dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000031826	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 1997)	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

SCV000031826

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 1997)

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

Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation.

Nomura Y, Onigata K, Nagashima T, Yutani S, Mochizuki H, Nagashima K, Morikawa A.

J Clin Endocrinol Metab. 1997 Oct;82(10):3434-7.

PubMed [citation]

PMID:: 9329382

Details of each submission

From OMIM, SCV000031826.3

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

Description

In 6 members of a Japanese family with X-linked nephrogenic diabetes insipidus (NDI1; 304800), Nomura et al. (1997) identified a 1-bp insertion (804insG) in the AVPR2 gene, resulting in a frameshift and premature termination at codon 258. Three heterozygous females had differences in clinical severity of NDI. The X-inactivation patterns of these females were investigated by studying the methylated trinucleotide repeat in the human androgen receptor gene. The grandmother showed extremely skewed methylation of one X chromosome, while her daughter had moderately skewed methylation. The daughter of the grandmother's sister, who had no symptoms of NDI, showed random methylation. Nomura et al. (1997) suggested that the highly skewed X-inactivation pattern of the grandmother indicated that her NDI phenotype was caused by dominant methylation of the normal allele of AVPR2 gene.

#	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: Dec 24, 2023

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