NM_031850.3(AGTR1):c.950C>T (p.Thr317Met) AND Renal dysplasia

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2005)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019690.27

Allele description

NM_031850.3(AGTR1):c.950C>T (p.Thr317Met)

Gene:
AGTR1:angiotensin II receptor type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_031850.3(AGTR1):c.950C>T (p.Thr317Met)
HGVS:
  • NC_000003.12:g.148741880C>T
  • NG_008468.1:g.49010C>T
  • NM_031850.3:c.950C>T
  • NP_114038.4:p.Thr317Met
  • NC_000003.11:g.148459667C>T
Protein change:
T282M; THR282MET
Links:
OMIM: 106165.0004; dbSNP: rs104893677
NCBI 1000 Genomes Browser:
rs104893677
Molecular consequence:
  • NM_031850.3:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Renal dysplasia (RTD)
Synonyms:
Dysplastic kidneys; Renal adysplasia; Renal tubular dysgenesis; See all synonyms [MedGen]
Identifiers:
MedGen: C3536714; OMIM: 267430; Human Phenotype Ontology: HP:0000110

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039988OMIMno assertion criteria providedPathogenic
(Sep 1, 2005)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.

Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC.

Nat Genet. 2005 Sep;37(9):964-8. Epub 2005 Aug 14.

PubMed [citation]
PMID:
16116425

Details of each submission

From OMIM, SCV000039988.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the thr282-to-met (T282M) mutation in the AGTR1 gene that was found in compound heterozygous state in patients with renal tubular dysgenesis (267430) by Gribouval et al. (2005), see 106165.0003.

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

Last Updated: Dec 23, 2018

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