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NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 30, 2019
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:
RCV002426680.9

Allele description [Variation Report for NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)]

NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)

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.2518G>A (p.Glu840Lys)
Other names:
p.E840K:GAG>AAG
HGVS:
  • NC_000012.12:g.109783719C>T
  • NG_017090.1:g.54689G>A
  • NM_001177428.1:c.2377G>A
  • NM_001177431.1:c.2416G>A
  • NM_001177433.1:c.2197G>A
  • NM_021625.5:c.2518G>AMANE SELECT
  • NM_147204.2:c.2338G>A
  • NP_001170899.1:p.Glu793Lys
  • NP_001170902.1:p.Glu806Lys
  • NP_001170904.1:p.Glu733Lys
  • NP_067638.3:p.Glu840Lys
  • NP_067638.3:p.Glu840Lys
  • NP_671737.1:p.Glu780Lys
  • LRG_372t1:c.2518G>A
  • LRG_372:g.54689G>A
  • LRG_372p1:p.Glu840Lys
  • NC_000012.11:g.110221524C>T
  • NM_021625.4:c.2518G>A
Protein change:
E733K
Links:
dbSNP: rs55728855
NCBI 1000 Genomes Browser:
rs55728855
Molecular consequence:
  • NM_001177428.1:c.2377G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.2416G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.2518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.2338G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002744380Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 30, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002744380.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024