NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) AND Usher syndrome, type 2C

Clinical significance:Likely pathogenic (Last evaluated: Feb 26, 2019)

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:
RCV000770810.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)]

NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)

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.16129G>T (p.Gly5377Ter)
HGVS:
  • NC_000005.10:g.90815669G>T
  • NG_007083.2:g.291326G>T
  • NM_032119.4:c.16129G>TMANE SELECT
  • NP_115495.3:p.Gly5377Ter
  • LRG_1095t1:c.16129G>T
  • LRG_1095:g.291326G>T
  • LRG_1095p1:p.Gly5377Ter
  • NC_000005.9:g.90111486G>T
  • NM_032119.3:c.[16129G>T]
  • NR_003149.2:n.16145G>T
Protein change:
G5377*
Links:
dbSNP: rs1561790371
NCBI 1000 Genomes Browser:
rs1561790371
Molecular consequence:
  • NR_003149.2:n.16145G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032119.4:c.16129G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Usher syndrome, type 2C (USH2C)
Synonyms:
USHER SYNDROME, TYPE IIC; Usher syndrome, type 2B
Identifiers:
MONDO: MONDO:0011558; MedGen: C2931213; Orphanet: 231178; Orphanet: 886; OMIM: 605472

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000902296Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospitalno assertion criteria providedLikely pathogenic
(Feb 26, 2019)
inheritedcase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyescase-control

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902296.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Jan 25, 2021

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