NM_021625.5(TRPV4):c.883A>G (p.Thr295Ala) AND Skeletal dysplasia

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 2, 2014
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:: RCV000202471.1

Allele description

NM_021625.5(TRPV4):c.883A>G (p.Thr295Ala)

Gene:

TRPV4:transient receptor potential cation channel subfamily V member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_021625.5(TRPV4):c.883A>G (p.Thr295Ala)

HGVS:

NC_000012.12:g.109798883T>C
NG_017090.1:g.39525A>G
NM_001177428.1:c.742A>G
NM_001177431.1:c.781A>G
NM_001177433.1:c.742A>G
NM_021625.5:c.883A>GMANE SELECT
NM_147204.2:c.883A>G
NP_001170899.1:p.Thr248Ala
NP_001170902.1:p.Thr261Ala
NP_001170904.1:p.Thr248Ala
NP_067638.3:p.Thr295Ala
NP_671737.1:p.Thr295Ala
LRG_372t1:c.883A>G
LRG_372:g.39525A>G
LRG_372p1:p.Thr295Ala
NC_000012.11:g.110236688T>C
NM_021625.4:c.883A>G
Q9HBA0:p.Thr295Ala

Protein change:

T248A

Links:

UniProtKB: Q9HBA0#VAR_064522; dbSNP: rs515726171

NCBI 1000 Genomes Browser:

rs515726171

Molecular consequence:

NM_001177428.1:c.742A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001177431.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001177433.1:c.742A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021625.5:c.883A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_147204.2:c.883A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Skeletal dysplasia
Identifiers:: MedGen: C0410528; Human Phenotype Ontology: HP:0002652

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148063	GeneReviews	no assertion criteria provided	Pathogenic (Apr 2, 2014)	germline	literature only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148063

GeneReviews

no assertion criteria provided

Pathogenic
(Apr 2, 2014)

germline

literature only

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000148063.1

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

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

Last Updated: Jun 18, 2022

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