NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Feb 12, 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:: RCV001701706.15

Allele description [Variation Report for NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)]

NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)

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.1546A>G (p.Ile516Val)

HGVS:

NC_000012.12:g.109793968T>C
NG_017090.1:g.44440A>G
NM_001177428.1:c.1405A>G
NM_001177431.1:c.1444A>G
NM_001177433.1:c.1225A>G
NM_021625.5:c.1546A>GMANE SELECT
NM_147204.2:c.1366A>G
NP_001170899.1:p.Ile469Val
NP_001170902.1:p.Ile482Val
NP_001170904.1:p.Ile409Val
NP_067638.3:p.Ile516Val
NP_067638.3:p.Ile516Val
NP_671737.1:p.Ile456Val
LRG_372t1:c.1546A>G
LRG_372:g.44440A>G
LRG_372p1:p.Ile516Val
NC_000012.11:g.110231773T>C
NM_021625.4:c.1546A>G

Protein change:

I409V

Links:

dbSNP: rs115976458

NCBI 1000 Genomes Browser:

rs115976458

Molecular consequence:

NM_001177428.1:c.1405A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001177431.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001177433.1:c.1225A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021625.5:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_147204.2:c.1366A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001471837	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Feb 12, 2020)	germline	clinical testing	Citation Link,
SCV001930929	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001972567	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001471837

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Feb 12, 2020)

germline

clinical testing

Citation Link,

SCV001930929

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely benign

germline

clinical testing

SCV001972567

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471837.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The TRPV4 c.1546A>G; p.Ile516Val variant (rs115976458), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 215918). This variant is found in the general population with an overall allele frequency of 0.018% (50/274120 alleles) in the Genome Aggregation Database. The isoleucine at codon 516 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ile516Val variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001930929.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001972567.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

ClinVar

Relating variation to medicine