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NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) AND Brachyrachia (short spine dysplasia)

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 30, 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:
RCV001331193.9

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)

Name:
Brachyrachia (short spine dysplasia) (BCYM3)
Synonyms:
Brachyolmia autosomal dominant; Brachyrachia; Brachyolmia Type 3
Identifiers:
MONDO: MONDO:0007232; MedGen: C0432227; Orphanet: 93304; OMIM: 113500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001523177Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 30, 2019) 		unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH.

Am J Med Genet A. 2010 May;152A(5):1169-77. doi: 10.1002/ajmg.a.33392.

PubMed [citation]
PMID:
20425821
PMCID:
PMC4169191

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, et al.

J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24.

PubMed [citation]
PMID:
20577006
See all PubMed Citations (6)

Details of each submission

From Baylor Genetics, SCV001523177.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 20425821, 20577006, 21573172, 26170305, 20503319]

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

Last Updated: Nov 3, 2024