U.S. flag

An official website of the United States government

NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 11, 2013
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:
RCV000155906.4

Allele description [Variation Report for NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)]

NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)

Gene:
ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)
HGVS:
  • NC_000005.10:g.90853382_90853394del
  • NG_007083.2:g.329039_329051del
  • NM_032119.4:c.17303_17315delMANE SELECT
  • NP_115495.3:p.Gly5768fs
  • LRG_1095t1:c.17303_17315del
  • LRG_1095:g.329039_329051del
  • LRG_1095p1:p.Gly5768fs
  • NC_000005.9:g.90149198_90149210del
  • NC_000005.9:g.90149199_90149211del
  • NM_032119.3:c.17303_17315delGAGATTACATTCG
  • NM_032119.4:c.17303_17315del
  • NR_003149.2:n.17319_17331del
  • p.Gly5768GlufsX14
Protein change:
G5768fs
Links:
dbSNP: rs727504644
NCBI 1000 Genomes Browser:
rs727504644
Observations:
1

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000205617Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Pathogenic
(Oct 11, 2013)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

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, SCV000205617.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Gly5768fs variant in GPR98 has not been reported in any individuals with hea ring loss or in large population studies. This frameshift variant is predicted t o alter the protein?s amino acid sequence beginning at position 5768 and lead to a premature termination codon 14 amino acids downstream. This alteration is the n predicted to lead to a truncated or absent protein. In summary, this variant m eets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) .

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

Last Updated: Feb 1, 2025