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NM_021625.5(TRPV4):c.695G>A (p.Arg232His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2016
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:
RCV000236974.1

Allele description [Variation Report for NM_021625.5(TRPV4):c.695G>A (p.Arg232His)]

NM_021625.5(TRPV4):c.695G>A (p.Arg232His)

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.695G>A (p.Arg232His)
HGVS:
  • NC_000012.12:g.109803008C>T
  • NG_017090.1:g.35400G>A
  • NM_001177428.1:c.695G>A
  • NM_001177431.1:c.593G>A
  • NM_001177433.1:c.695G>A
  • NM_021625.5:c.695G>AMANE SELECT
  • NM_147204.2:c.695G>A
  • NP_001170899.1:p.Arg232His
  • NP_001170902.1:p.Arg198His
  • NP_001170904.1:p.Arg232His
  • NP_067638.3:p.Arg232His
  • NP_067638.3:p.Arg232His
  • NP_671737.1:p.Arg232His
  • LRG_372t1:c.695G>A
  • LRG_372:g.35400G>A
  • LRG_372p1:p.Arg232His
  • NC_000012.11:g.110240813C>T
  • NM_021625.4:c.695G>A
Protein change:
R198H
Links:
dbSNP: rs769107613
NCBI 1000 Genomes Browser:
rs769107613
Molecular consequence:
  • NM_001177428.1:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294128GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Apr 8, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000294128.10

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

Description

The R232H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species. Different missense variants in the same residue (R232C, R232S) as well as missense variants in a nearby residue (R237G, R237L) have been reported in the Human Gene Mutation Database in association with TRPV4-related disorders (Stenson et al., 2014). However, the R232H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 15, 2024