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NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 16, 2019
Accession:
VCV000227413.4
Variation ID:
227413
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)

Allele ID
229344
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90008242 (GRCh37) GRCh37 UCSC
5: 90712425 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.90008242A>G
NC_000005.10:g.90712425A>G
NG_007083.2:g.188082A>G
... more HGVS
Protein change
I3061V
Other names
-
Canonical SPDI
NC_000005.10:90712424:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00006
Links
ClinGen: CA3340453
dbSNP: rs759038879
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Feb 18, 2016 RCV000215611.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001155534.1
Uncertain significance 1 criteria provided, single submitter Oct 16, 2019 RCV001242790.2
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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
2423 2454

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 18, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270249.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Ile3061Val in exon 42 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: SCV001316968.1
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 16, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001415901.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 3061 of the ADGRV1 protein (p.Ile3061Val). The isoleucine residue is weakly conserved and there is a … (more)

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 rs759038879...

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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 Nov 27, 2021