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NM_032119.4(ADGRV1):c.207+3A>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 2, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000178353.8
Variation ID:
178353
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.207+3A>G

Allele ID
174292
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90615022 (GRCh38) GRCh38 UCSC
5: 89910839 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90615022A>G
NC_000005.9:g.89910839A>G
NG_007083.2:g.90679A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90615021:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00103
Trans-Omics for Precision Medicine (TOPMed) 0.00104
The Genome Aggregation Database (gnomAD), exomes 0.00034
1000 Genomes Project 0.00160
Exome Aggregation Consortium (ExAC) 0.00063
The Genome Aggregation Database (gnomAD) 0.00096
Links
ClinGen: CA182162
dbSNP: rs142356935
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 Apr 30, 2012 RCV000155097.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001152780.1
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Nov 30, 2020 RCV000710441.8
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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
Uncertain significance
(May 29, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000861240.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000204781.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
207+3A>G in Intron 02 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (11/2880) of … (more)
Uncertain significance
(Sep 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840659.2
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001825449.1
Submitted: (Sep 02, 2021)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001314012.1
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)
Likely benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001036529.3
Submitted: (Jan 07, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ADGRV1 - - - -

Text-mined citations for rs142356935...

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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 Sep 24, 2021