NM_000054.7(AVPR2):c.472del (p.Arg158fs) 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:: RCV000029391.2

Allele description [Variation Report for NM_000054.7(AVPR2):c.472del (p.Arg158fs)]

NM_000054.7(AVPR2):c.472del (p.Arg158fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000054.7(AVPR2):c.472del (p.Arg158fs)

HGVS:

NC_000023.11:g.153905978del
NG_008687.1:g.6005del
NG_013220.1:g.25284del
NM_000054.7:c.472delMANE SELECT
NM_001146151.3:c.472del
NP_000045.1:p.Arg158fs
NP_001139623.1:p.Arg158fs
LRG_716t1:c.472del
LRG_716:g.6005del
LRG_716p1:p.Arg158fs
NC_000023.10:g.153171432del
NM_000054.4:c.472delC
p.Arg158GlyfsX4

Protein change:

R158fs

Links:

dbSNP: rs193922115

NCBI 1000 Genomes Browser:

rs193922115

Molecular consequence:

NM_000054.7:c.472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001146151.3:c.472del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000052039	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	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052039

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

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052039.2

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

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	not provided	Blood	assert pathogenicity		not provided	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.927A>G, AVPR2:c.26-6T>G	1

Last Updated: Apr 23, 2022

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