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NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) AND not provided

Germline classification:
Uncertain significance (4 submissions)
Last evaluated:
Aug 4, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001508337.11

Allele description [Variation Report for NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)]

NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)

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.958C>T (p.Arg320Ter)
HGVS:
  • NC_000012.12:g.109798808G>A
  • NG_017090.1:g.39600C>T
  • NM_001177428.1:c.817C>T
  • NM_001177431.1:c.856C>T
  • NM_001177433.1:c.817C>T
  • NM_021625.5:c.958C>TMANE SELECT
  • NM_147204.2:c.958C>T
  • NP_001170899.1:p.Arg273Ter
  • NP_001170902.1:p.Arg286Ter
  • NP_001170904.1:p.Arg273Ter
  • NP_067638.3:p.Arg320Ter
  • NP_067638.3:p.Arg320Ter
  • NP_671737.1:p.Arg320Ter
  • LRG_372t1:c.958C>T
  • LRG_372:g.39600C>T
  • LRG_372p1:p.Arg320Ter
  • NC_000012.11:g.110236613G>A
  • NM_021625.4:c.958C>T
  • NM_021625.5:c.958C>T
  • p.Arg320*
Protein change:
R273*
Links:
dbSNP: rs142902080
NCBI 1000 Genomes Browser:
rs142902080
Molecular consequence:
  • NM_001177428.1:c.817C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001177431.1:c.856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001177433.1:c.817C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021625.5:c.958C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_147204.2:c.958C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV001714415Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jul 10, 2020)
germlineclinical testing

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

SCV001809076Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001958790Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV003821546Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 4, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714415.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001809076.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001958790.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Revvity Omics, Revvity, SCV003821546.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024