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NM_000486.6(AQP2):c.3G>T (p.Met1Ile) AND Diabetes insipidus, nephrogenic, autosomal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 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:
RCV001293732.1

Allele description [Variation Report for NM_000486.6(AQP2):c.3G>T (p.Met1Ile)]

NM_000486.6(AQP2):c.3G>T (p.Met1Ile)

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.3G>T (p.Met1Ile)
HGVS:
  • NC_000012.12:g.49950833G>T
  • NG_008913.1:g.5093G>T
  • NM_000486.6:c.3G>TMANE SELECT
  • NP_000477.1:p.Met1Ile
  • LRG_717t1:c.3G>T
  • LRG_717:g.5093G>T
  • NC_000012.11:g.50344616G>T
  • NM_000486.5:c.3G>T
Protein change:
M1I
Links:
dbSNP: rs1288385043
NCBI 1000 Genomes Browser:
rs1288385043
Molecular consequence:
  • NM_000486.6:c.3G>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000486.6:c.3G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diabetes insipidus, nephrogenic, autosomal (NDI2)
Synonyms:
Nephrogenic Diabetes Insipidus, Type II; Diabetes insipidus, nephrogenic, 2, autosomal
Identifiers:
MONDO: MONDO:0007451; MedGen: C1563706; Orphanet: 223; OMIM: 125800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482386Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
no assertion criteria provided
Pathogenic
(May 31, 2019) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital, SCV001482386.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023