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NM_032119.4(ADGRV1):c.9447+6G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(4);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
9 (Most recent: Sep 15, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000163588.16
Variation ID:
163588
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.9447+6G>A

Allele ID
174309
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90716735 (GRCh38) GRCh38 UCSC
5: 90012552 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90716735G>A
NC_000005.9:g.90012552G>A
NG_007083.2:g.192392G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90716734:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00073
The Genome Aggregation Database (gnomAD), exomes 0.00091
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00051
Exome Aggregation Consortium (ExAC) 0.00086
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00077
Links
ClinGen: CA176205
dbSNP: rs201481219
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 31, 2015 RCV000150766.5
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001157221.1
Conflicting interpretations of pathogenicity 6 criteria provided, conflicting interpretations Nov 21, 2020 RCV000724883.10
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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
Likely benign
(Oct 31, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000297336.2
Submitted: (Jan 06, 2016)
Evidence details
Likely benign
(Feb 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476092.1
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001034043.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jun 25, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001872540.1
Submitted: (Sep 15, 2021)
Evidence details
Uncertain significance
(Jun 23, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332145.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 19, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000198252.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.9447+6G>A in intron 6 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.3% (32/11530) of Latino … (more)
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: SCV001318772.1
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 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001154443.7
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553697.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The ADGRV1 c.9447+6G>A variant was not identified in the literature but was identified in dbSNP (ID: rs201481219) and ClinVar (classified as a VUS by EGL … (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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ADGRV1 - - - -

Text-mined citations for rs201481219...

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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