NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1]) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 2022
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:: RCV002549754.2

Allele description [Variation Report for NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])]

NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])

HGVS:

NC_000023.11:g.153905697GGCGGGGCC[1]
NC_000023.11:g.153905697_153905705GGCGGGGCC[1]
NG_008687.1:g.5724GGCGGGGCC[1]
NG_013220.1:g.25548GCCCCGCCG[1]
NM_000054.7:c.191GGCGGGGCC[1]MANE SELECT
NM_001146151.3:c.191GGCGGGGCC[1]
NP_000045.1:p.64RRG[1]
NP_001139623.1:p.64RRG[1]
LRG_716t1:c.191GGCGGGGCC[1]
LRG_716:g.5724GGCGGGGCC[1]
LRG_716p1:p.64RRG[1]
NC_000023.10:g.153171150_153171158del
NC_000023.10:g.153171150_153171158delCGGCGGGGC
NC_000023.10:g.153171151GGCGGGGCC[1]
NM_000054.4:c.200_208delGGCGGGGCC

Links:

dbSNP: rs782292545

NCBI 1000 Genomes Browser:

rs782292545

Molecular consequence:

NM_000054.7:c.191GGCGGGGCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001146151.3:c.191GGCGGGGCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003248986	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 15, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22644838, 29117938, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003248986

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 15, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.

Duzenli D, Saglar E, Deniz F, Azal O, Erdem B, Mergen H.

Endocrine. 2012 Dec;42(3):664-9. doi: 10.1007/s12020-012-9704-1. Epub 2012 May 29.

PubMed [citation]

PMID:: 22644838

Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.

Erdem B, Schulz A, Saglar E, Deniz F, Schöneberg T, Mergen H.

Endocr Connect. 2018 Jan;7(1):56-64. doi: 10.1530/EC-17-0236. Epub 2017 Nov 8.

PubMed [citation]

PMID:: 29117938
PMCID:: PMC5744627

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003248986.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant, c.200_208del, results in the deletion of 3 amino acid(s) of the AVPR2 protein (p.Arg67_Gly69del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782292545, gnomAD 0.02%). This variant has been observed in individual(s) with nephrogenic diabetes insipidus (PMID: 22644838). This variant is also known as 271del9 or ùùôR67-G69. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on AVPR2 function (PMID: 29117938). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jun 23, 2024

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