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NM_000486.6(AQP2):c.204C>T (p.Asn68=) AND Nephrogenic diabetes insipidus

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 22, 2019
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:
RCV001825788.1

Allele description [Variation Report for NM_000486.6(AQP2):c.204C>T (p.Asn68=)]

NM_000486.6(AQP2):c.204C>T (p.Asn68=)

Gene:
AQP2:aquaporin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_000486.6(AQP2):c.204C>T (p.Asn68=)
HGVS:
  • NC_000012.12:g.49951034C>T
  • NG_008913.1:g.5294C>T
  • NM_000486.6:c.204C>TMANE SELECT
  • NP_000477.1:p.Asn68=
  • NP_000477.1:p.Asn68=
  • LRG_717t1:c.204C>T
  • LRG_717:g.5294C>T
  • LRG_717p1:p.Asn68=
  • NC_000012.11:g.50344817C>T
  • NM_000486.5:c.204C>T
Links:
dbSNP: rs57915981
NCBI 1000 Genomes Browser:
rs57915981
Molecular consequence:
  • NM_000486.6:c.204C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002091095Natera, Inc.
no assertion criteria provided
Likely benign
(Oct 22, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002091095.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024