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NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:
Jun 1, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000713881.45

Allele description [Variation Report for NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)]

NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)

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.2304G>C (p.Ser768=)
HGVS:
  • NC_000012.12:g.109786742C>G
  • NG_017090.1:g.51666G>C
  • NM_001177428.1:c.2163G>C
  • NM_001177431.1:c.2202G>C
  • NM_001177433.1:c.1983G>C
  • NM_021625.5:c.2304G>CMANE SELECT
  • NM_147204.2:c.2124G>C
  • NP_001170899.1:p.Ser721=
  • NP_001170902.1:p.Ser734=
  • NP_001170904.1:p.Ser661=
  • NP_067638.3:p.Ser768=
  • NP_067638.3:p.Ser768=
  • NP_671737.1:p.Ser708=
  • LRG_372t1:c.2304G>C
  • LRG_372:g.51666G>C
  • LRG_372p1:p.Ser768=
  • NC_000012.11:g.110224547C>G
  • NM_021625.4:c.2304G>C
  • p.Ser768Ser
Links:
dbSNP: rs138986228
NCBI 1000 Genomes Browser:
rs138986228
Molecular consequence:
  • NM_001177428.1:c.2163G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001177431.1:c.2202G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001177433.1:c.1983G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021625.5:c.2304G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_147204.2:c.2124G>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
9

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
SCV000704480Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Jan 5, 2017)
germlineclinical testing

Citation Link,

SCV000714872GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Jan 19, 2021)
germlineclinical testing

Citation Link,

SCV000844521Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Benign
(Nov 3, 2017)
germlineclinical testing

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

SCV000884744ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)
Likely benign
(Feb 1, 2022)
germlineclinical testing

Citation Link,

SCV001148822CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Jun 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes8not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000704480.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000714872.2

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

From Athena Diagnostics, SCV000844521.1

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884744.3

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

From CeGaT Center for Human Genetics Tuebingen, SCV001148822.24

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided

Description

TRPV4: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided8not providednot providednot provided

Last Updated: Jul 15, 2024