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NM_032119.4(ADGRV1):c.14973-2A>G AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 3, 2020
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:
RCV000039531.6

Allele description [Variation Report for NM_032119.4(ADGRV1):c.14973-2A>G]

NM_032119.4(ADGRV1):c.14973-2A>G

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.14973-2A>G
HGVS:
  • NC_000005.10:g.90810231A>G
  • NG_007083.2:g.285888A>G
  • NM_032119.4:c.14973-2A>GMANE SELECT
  • LRG_1095t1:c.14973-2A>G
  • LRG_1095:g.285888A>G
  • NC_000005.9:g.90106048A>G
  • NM_032119.3:c.14973-2A>G
  • c.14973-2A>G
Links:
dbSNP: rs371981035
NCBI 1000 Genomes Browser:
rs371981035
Molecular consequence:
  • NM_032119.4:c.14973-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
2

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
SCV000063220Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Jul 3, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown32not 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, SCV000063220.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

The c.14973-2A>G variant in ADGRV1 has been reported in 1 individual with Usher syndrome who harbored a second variant in ADGRV1 and segregated with disease in 1 affected relative (LMM internal data). It has also been identified in 0.16% (12/7704) of Ashkenazi Jewish chromosomes and 1/84474 European chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has been reported in ClinVar (Variation ID: 46275). This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the ADGRV1 gene is an established disease mechanism in autosomal recessive Usher syndrome. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome. ACMG/AMP Criteria applied: PVS1, PM3, PP1, PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not provided2not provided

Last Updated: Jun 23, 2024