NM_000054.7(AVPR2):c.24del (p.Ala9fs) AND Diabetes insipidus, nephrogenic, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 20, 2017
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:: RCV000505581.2

Allele description [Variation Report for NM_000054.7(AVPR2):c.24del (p.Ala9fs)]

NM_000054.7(AVPR2):c.24del (p.Ala9fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000054.7(AVPR2):c.24del (p.Ala9fs)

HGVS:

NC_000023.11:g.153905169del
NG_008687.1:g.5196del
NM_000054.7:c.24delMANE SELECT
NM_001146151.3:c.24del
NP_000045.1:p.Ala9fs
NP_001139623.1:p.Ala9fs
LRG_716t1:c.24del
LRG_716:g.5196del
LRG_716p1:p.Ala9fs
NC_000023.10:g.153170623del
NM_000054.4:c.24delC
NR_027419.2:n.464del

Protein change:

A9fs

Links:

dbSNP: rs1557100304

NCBI 1000 Genomes Browser:

rs1557100304

Molecular consequence:

NM_000054.7:c.24del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001146151.3:c.24del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027419.2:n.464del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599813	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Pathogenic (Apr 20, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599813

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Pathogenic
(Apr 20, 2017)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000599813.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine