NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) AND Seizures

Clinical significance:Uncertain significance (Last evaluated: Jan 24, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001255058.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)]

NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)

Gene:
ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
HGVS:
  • NC_000005.10:g.90635129T>G
  • NG_007083.2:g.110786T>G
  • NM_032119.4:c.1855T>GMANE SELECT
  • NP_115495.3:p.Leu619Val
  • LRG_1095t1:c.1855T>G
  • LRG_1095:g.110786T>G
  • LRG_1095p1:p.Leu619Val
  • NC_000005.9:g.89930946T>G
  • NM_032119.3:c.1855T>G
  • NR_003149.2:n.1954T>G
Protein change:
L619V
Links:
dbSNP: rs202064612
NCBI 1000 Genomes Browser:
rs202064612
Molecular consequence:
  • NM_032119.4:c.1855T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.1954T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001431149New York Genome Centerno assertion criteria providedUncertain significance
(Jan 24, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV001431149.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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