NM_021625.4(TRPV4):c.2399G>A (p.Gly800Asp) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jun 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000498155.1

Allele description [Variation Report for NM_021625.4(TRPV4):c.2399G>A (p.Gly800Asp)]

NM_021625.4(TRPV4):c.2399G>A (p.Gly800Asp)

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_021625.4(TRPV4):c.2399G>A (p.Gly800Asp)
HGVS:
  • NC_000012.12:g.109784375C>T
  • NG_017090.1:g.54033G>A
  • NM_001177428.1:c.2258G>A
  • NM_001177431.1:c.2297G>A
  • NM_001177433.1:c.2078G>A
  • NM_021625.4:c.2399G>A
  • NM_147204.2:c.2219G>A
  • NP_001170899.1:p.Gly753Asp
  • NP_001170902.1:p.Gly766Asp
  • NP_001170904.1:p.Gly693Asp
  • NP_067638.3:p.Gly800Asp
  • NP_671737.1:p.Gly740Asp
  • LRG_372t1:c.2399G>A
  • LRG_372:g.54033G>A
  • LRG_372p1:p.Gly800Asp
  • NC_000012.11:g.110222180C>T
Protein change:
G693D
Links:
dbSNP: rs1555204615
NCBI 1000 Genomes Browser:
rs1555204615
Molecular consequence:
  • NM_001177428.1:c.2258G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.2297G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.2078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.4:c.2399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.2219G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000590829Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Childrencriteria provided, single submitter
Likely pathogenic
(Jun 22, 2016)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedclinical testing

Citations

PubMed

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

Hurd L, Kirwin SM, Boggs M, Mackenzie WG, Bober MB, Funanage VL, Duncan RL.

Am J Med Genet A. 2015 Oct;167A(10):2286-93. doi: 10.1002/ajmg.a.37182. Epub 2015 Aug 6.

PubMed [citation]
PMID:
26249260

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children, SCV000590829.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

clincal confirmation of a research mutation

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 2, 2019

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