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

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2005
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:: 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_000685.4:c.845C>T
NM_004835.4:c.950C>T
NM_009585.3:c.845C>T
NM_031850.3:c.950C>T
NM_032049.3:c.932C>T
NP_000676.1:p.Thr282Met
NP_004826.5:p.Thr317Met
NP_033611.1:p.Thr282Met
NP_114038.4:p.Thr317Met
NP_114438.2:p.Thr311Met
NC_000003.11:g.148459667C>T

Protein change:

T282M; THR282MET

Links:

OMIM: 106165.0004; dbSNP: rs104893677

NCBI 1000 Genomes Browser:

rs104893677

Molecular consequence:

NM_000685.4:c.845C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004835.4:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_009585.3:c.845C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_031850.3:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032049.3:c.932C>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: C0266313; OMIM: 267430; Human Phenotype Ontology: HP:0000110

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039988	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039988

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2005)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 2, 2019

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