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NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001549550.10

Allele description [Variation Report for NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)]

NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)

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.2389G>A (p.Glu797Lys)
Other names:
E797K
HGVS:
  • NC_000012.12:g.109784385C>T
  • NG_017090.1:g.54023G>A
  • NM_001177428.1:c.2248G>A
  • NM_001177431.1:c.2287G>A
  • NM_001177433.1:c.2068G>A
  • NM_021625.5:c.2389G>AMANE SELECT
  • NM_147204.2:c.2209G>A
  • NP_001170899.1:p.Glu750Lys
  • NP_001170902.1:p.Glu763Lys
  • NP_001170904.1:p.Glu690Lys
  • NP_067638.3:p.Glu797Lys
  • NP_067638.3:p.Glu797Lys
  • NP_671737.1:p.Glu737Lys
  • LRG_372t1:c.2389G>A
  • LRG_372:g.54023G>A
  • LRG_372p1:p.Glu797Lys
  • NC_000012.11:g.110222190C>T
  • NM_021625.4:c.2389G>A
  • NM_021625.4:c.[2389G>A]
  • Q9HBA0:p.Glu797Lys
Protein change:
E690K; GLU797LYS
Links:
UniProtKB: Q9HBA0#VAR_064537; OMIM: 605427.0018; dbSNP: rs267607149
NCBI 1000 Genomes Browser:
rs267607149
Molecular consequence:
  • NM_001177428.1:c.2248G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.2287G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.2389G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.2209G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001769727GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Dec 16, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001769727.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported previously in multiple individuals with TRPV4-related disorders including metatropic dysplasia and spondylo-epimetaphyseal dysplasia, Maroteaux-pseudo-Morquio type 2 (Camacho et al., 2010; Nishimura et al., 2010); Published functional studies demonstrate a damaging effect: increased basal activity and a reduced response to calmodulin (Loukin et al., 2015); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 12765694, 20676052, 23143559, 20577006, 26170305, 21573172, 20503319, 20425821)

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

Last Updated: Nov 3, 2024