Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 24, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000046386.6
Variation ID:
46386
Description:
single nucleotide variant
Help

NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)

Allele ID
55551
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90703670 (GRCh38) GRCh38 UCSC
5: 89999487 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90703670A>G
NC_000005.9:g.89999487A>G
NG_007083.2:g.179327A>G
... more HGVS
Protein change
I2721V
Other names
-
Canonical SPDI
NC_000005.10:90703669:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00051
The Genome Aggregation Database (gnomAD), exomes 0.00052
The Genome Aggregation Database (gnomAD) 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00062
Exome Aggregation Consortium (ExAC) 0.00070
Links
ClinGen: CA138236
dbSNP: rs201963060
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 17, 2012 RCV000039642.5
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001151661.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Oct 27, 2020 RCV000724489.5
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ADGRV1 - - GRCh38
GRCh37
2418 2449

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 21, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229799.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://deafnessvariationdatabase…
http://www.ncbi.nlm.nih.gov/vari…
Likely benign
(Apr 17, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063331.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Ile2721Val in exon 35 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001312826.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001210534.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 2721 of the ADGRV1 protein (p.Ile2721Val). The isoleucine residue is weakly conserved and there is a … (more)
Likely benign
(Jun 25, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000978896.1
Submitted: (Sep 24, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 32707200)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Text-mined citations for rs201963060...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 26, 2021