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NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 29, 2021)
Last evaluated:
Nov 17, 2020
Accession:
VCV000046361.9
Variation ID:
46361
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)

Allele ID
55526
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90692732 (GRCh38) GRCh38 UCSC
5: 89988549 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1095:g.168389G>A
LRG_1095t1:c.7079G>A LRG_1095p1:p.Arg2360His
NC_000005.10:g.90692732G>A
... more HGVS
Protein change
R2360H
Other names
-
Canonical SPDI
NC_000005.10:90692731:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00919 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00323
1000 Genomes Project 0.00919
The Genome Aggregation Database (gnomAD), exomes 0.00188
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00895
The Genome Aggregation Database (gnomAD) 0.00720
Trans-Omics for Precision Medicine (TOPMed) 0.00815
Links
ClinGen: CA138192
dbSNP: rs111033470
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 6 criteria provided, multiple submitters, no conflicts Nov 17, 2020 RCV000224147.8
Benign 1 criteria provided, single submitter Feb 21, 2016 RCV000039617.6
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001151575.1
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840678.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001312709.1
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)
Benign
(Nov 17, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001114316.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 09, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000728526.2
Submitted: (Sep 29, 2021)
Evidence details
Benign
(Jun 04, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281369.1
Submitted: (May 19, 2016)
Evidence details
Benign
(Feb 21, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063306.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Arg2360His in exon 32 of GPR98: This variant is not expected to have clinical significance because it has been identified in 3% (269/7900) of African … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930631.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001965084.1
Submitted: (Sep 21, 2021)
Evidence details

Functional evidence

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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.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs111033470...

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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 Oct 07, 2021