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NM_000054.7(AVPR2):c.797T>C (p.Val266Ala) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509119.1

Allele description [Variation Report for NM_000054.7(AVPR2):c.797T>C (p.Val266Ala)]

NM_000054.7(AVPR2):c.797T>C (p.Val266Ala)

Gene:
AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000054.7(AVPR2):c.797T>C (p.Val266Ala)
HGVS:
  • NC_000023.11:g.153906303T>C
  • NG_008687.1:g.6330T>C
  • NG_013220.1:g.24958A>G
  • NM_000054.7:c.797T>CMANE SELECT
  • NM_001146151.3:c.797T>C
  • NP_000045.1:p.Val266Ala
  • NP_001139623.1:p.Val266Ala
  • LRG_716t1:c.797T>C
  • LRG_716:g.6330T>C
  • LRG_716p1:p.Val266Ala
  • NC_000023.10:g.153171757T>C
  • NM_000054.4:c.797T>C
  • NR_027419.2:n.750T>C
Protein change:
V266A
Links:
dbSNP: rs111643041
NCBI 1000 Genomes Browser:
rs111643041
Molecular consequence:
  • NM_000054.7:c.797T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001146151.3:c.797T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027419.2:n.750T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Diabetes insipidus, nephrogenic, X-linked
Synonyms:
Diabetes insipidus nephrogenic type 1; Nephrogenic Diabetes Insipidus, Type I
Identifiers:
MONDO: MONDO:0010581; MedGen: C1563705; Orphanet: 223; OMIM: 304800
Name:
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)
Identifiers:
MONDO: MONDO:0010356; MedGen: C1845202; Orphanet: 93606; OMIM: 300539

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607187GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607187.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Mar 30, 2024