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NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2015
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:
RCV000214702.4

Allele description [Variation Report for NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)]

NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)

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.7129C>T (p.Arg2377Ter)
HGVS:
  • NC_000005.10:g.90692782C>T
  • NG_007083.2:g.168439C>T
  • NM_032119.4:c.7129C>TMANE SELECT
  • NP_115495.3:p.Arg2377Ter
  • LRG_1095t1:c.7129C>T
  • LRG_1095:g.168439C>T
  • LRG_1095p1:p.Arg2377Ter
  • NC_000005.9:g.89988599C>T
  • NM_032119.3:c.7129C>T
  • NR_003149.2:n.7145C>T
  • p.Arg2377X
Protein change:
R2377*
Links:
dbSNP: rs758718347
NCBI 1000 Genomes Browser:
rs758718347
Molecular consequence:
  • NR_003149.2:n.7145C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032119.4:c.7129C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000271377Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Jun 23, 2015) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

Experience of targeted Usher exome sequencing as a clinical test.

Besnard T, García-García G, Baux D, Vaché C, Faugère V, Larrieu L, Léonard S, Millan JM, Malcolm S, Claustres M, Roux AF.

Mol Genet Genomic Med. 2014 Jan;2(1):30-43. doi: 10.1002/mgg3.25. Epub 2013 Jul 10.

PubMed [citation]
PMID:
24498627
PMCID:
PMC3907913

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271377.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)

Description

The p.Arg2377X variant in GPR98 has been reported in one individual with Usher s yndrome type 2 (Besnard 2014). It has also been identified in 1/10908 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org). Although this variant has been seen in the general population, its fr equency is low enough to be consistent with a recessive carrier frequency. This nonsense variant leads to a premature termination codon at position 2377, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for hearing loss in an autosom al recessive manner (http://www.partners.org/personalizedmedicine/LMM) based upo n predicted impact to protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Sep 29, 2024