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NM_000486.6(AQP2):c.102_104del (p.Trp34_Pro35delinsTer) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 25, 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:
RCV002796928.3

Allele description [Variation Report for NM_000486.6(AQP2):c.102_104del (p.Trp34_Pro35delinsTer)]

NM_000486.6(AQP2):c.102_104del (p.Trp34_Pro35delinsTer)

Gene:
AQP2:aquaporin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_000486.6(AQP2):c.102_104del (p.Trp34_Pro35delinsTer)
HGVS:
  • NC_000012.12:g.49950932_49950934del
  • NG_008913.1:g.5192_5194del
  • NM_000486.6:c.102_104delMANE SELECT
  • NP_000477.1:p.Trp34_Ala271del
  • NP_000477.1:p.Trp34_Pro35delinsTer
  • LRG_717t1:c.102_104del
  • LRG_717:g.5192_5194del
  • LRG_717p1:p.Trp34_Ala271del
  • NC_000012.11:g.50344715_50344717del
  • NM_000486.5:c.102_104delGCC
Molecular consequence:
  • NM_000486.6:c.102_104del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003196627Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 25, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation.

Hochberg Z, Van Lieburg A, Even L, Brenner B, Lanir N, Van Oost BA, Knoers NV.

J Clin Endocrinol Metab. 1997 Feb;82(2):686-9.

PubMed [citation]
PMID:
9024277

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

Bichet DG, Bockenhauer D.

Best Pract Res Clin Endocrinol Metab. 2016 Mar;30(2):263-76. doi: 10.1016/j.beem.2016.02.010. Epub 2016 Mar 2. Review.

PubMed [citation]
PMID:
27156763
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003196627.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with AQP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp34*) in the AQP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AQP2 are known to be pathogenic (PMID: 9024277, 27156763).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024