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NM_021625.5(TRPV4):c.1805A>G (p.Tyr602Cys) AND Spondyloepimetaphyseal dysplasia, Maroteaux type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2010
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:
RCV000023425.11

Allele description [Variation Report for NM_021625.5(TRPV4):c.1805A>G (p.Tyr602Cys)]

NM_021625.5(TRPV4):c.1805A>G (p.Tyr602Cys)

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.1805A>G (p.Tyr602Cys)
Other names:
Y602C
HGVS:
  • NC_000012.12:g.109792671T>C
  • NG_017090.1:g.45737A>G
  • NM_001177428.1:c.1664A>G
  • NM_001177431.1:c.1703A>G
  • NM_001177433.1:c.1484A>G
  • NM_021625.5:c.1805A>GMANE SELECT
  • NM_147204.2:c.1625A>G
  • NP_001170899.1:p.Tyr555Cys
  • NP_001170902.1:p.Tyr568Cys
  • NP_001170904.1:p.Tyr495Cys
  • NP_067638.3:p.Tyr602Cys
  • NP_671737.1:p.Tyr542Cys
  • LRG_372t1:c.1805A>G
  • LRG_372:g.45737A>G
  • LRG_372p1:p.Tyr602Cys
  • NC_000012.11:g.110230476T>C
  • NM_021625.4:c.1805A>G
  • Q9HBA0:p.Tyr602Cys
Protein change:
Y495C; TYR602CYS
Links:
UniProtKB: Q9HBA0#VAR_064529; OMIM: 605427.0021; dbSNP: rs267607150
NCBI 1000 Genomes Browser:
rs267607150
Molecular consequence:
  • NM_001177428.1:c.1664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.1703A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.1805A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spondyloepimetaphyseal dysplasia, Maroteaux type
Synonyms:
Spondyloepiphyseal dysplasia Maroteaux type; SED, Maroteaux type; PSEUDO-MORQUIO SYNDROME, TYPE 2
Identifiers:
MONDO: MONDO:0008473; MedGen: C3159322; Orphanet: 263482; OMIM: 184095

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044716OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2010) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.

Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414.

PubMed [citation]
PMID:
20503319

Details of each submission

From OMIM, SCV000044716.2

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

Description

In a 6.5-year-old boy from a 4-generation family with the Maroteaux type of spondyloepiphyseal dysplasia (184095), Nishimura et al. (2010) identified heterozygosity for a c.1805A-G transition in exon 11 of the TRPV4 gene, resulting in a tyr602-to-cys (Y602C) substitution. His mother, maternal grandfather, and great-grandmother were also affected.

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

Last Updated: May 19, 2024