NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) AND Retinal dystrophy

Clinical significance:Likely pathogenic (Last evaluated: Nov 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001073322.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)]

NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)

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.14365C>T (p.Arg4789Trp)
HGVS:
  • NC_000005.10:g.90791194C>T
  • NG_007083.2:g.266851C>T
  • NM_032119.4:c.14365C>TMANE SELECT
  • NP_115495.3:p.Arg4789Trp
  • LRG_1095t1:c.14365C>T
  • LRG_1095:g.266851C>T
  • LRG_1095p1:p.Arg4789Trp
  • NC_000005.9:g.90087011C>T
  • NM_032119.3:c.14365C>T
  • NR_003149.2:n.14381C>T
Protein change:
R4789W
Links:
dbSNP: rs1131691924
NCBI 1000 Genomes Browser:
rs1131691924
Molecular consequence:
  • NM_032119.4:c.14365C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.14381C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001238861Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 20, 2018)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001238861

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001238861.1

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

Last Updated: Jul 7, 2021

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