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NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 4, 2020
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:
RCV000202515.13

Allele description [Variation Report for NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter)]

NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter)

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.2198G>A (p.Trp733Ter)
HGVS:
  • NC_000012.12:g.109788410C>T
  • NG_017090.1:g.49998G>A
  • NM_001177428.1:c.2057G>A
  • NM_001177431.1:c.2096G>A
  • NM_001177433.1:c.1877G>A
  • NM_021625.5:c.2198G>AMANE SELECT
  • NM_147204.2:c.2018G>A
  • NP_001170899.1:p.Trp686Ter
  • NP_001170902.1:p.Trp699Ter
  • NP_001170904.1:p.Trp626Ter
  • NP_067638.3:p.Trp733Ter
  • NP_671737.1:p.Trp673Ter
  • LRG_372t1:c.2198G>A
  • LRG_372:g.49998G>A
  • LRG_372p1:p.Trp733Ter
  • NC_000012.11:g.110226215C>T
  • NM_021625.4:c.2198G>A
Protein change:
W626*
Links:
dbSNP: rs200757159
NCBI 1000 Genomes Browser:
rs200757159
Molecular consequence:
  • NM_001177428.1:c.2057G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001177431.1:c.2096G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001177433.1:c.1877G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021625.5:c.2198G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_147204.2:c.2018G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000148038GeneReviews
no classification provided
not providedgermlineliterature only

SCV000619117GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 4, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, literature only

Details of each submission

From GeneReviews, SCV000148038.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000619117.4

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

Description

Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 24830047, 25737550, 22851605, 27698146)

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

Last Updated: Apr 15, 2024