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NM_032119.4(ADGRV1):c.22+9T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000193464.6
Variation ID:
193464
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.22+9T>C

Allele ID
190628
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90558926 (GRCh38) GRCh38 UCSC
5: 89854743 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90558926T>C
NC_000005.9:g.89854743T>C
NM_032119.4:c.22+9T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90558925:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00202
Exome Aggregation Consortium (ExAC) 0.00120
1000 Genomes Project 0.00200
Trans-Omics for Precision Medicine (TOPMed) 0.00229
The Genome Aggregation Database (gnomAD), exomes 0.00058
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00231
Links
ClinGen: CA200598
dbSNP: rs368604803
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 Jun 4, 2015 RCV000173536.5
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 10, 2020 RCV000710442.4
Benign 1 criteria provided, single submitter Jan 5, 2020 RCV001282115.1
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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
2305 2336

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840660.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jan 05, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000602452.3
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001037496.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 04, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224658.5
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: SCV000711033.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.22+9T>C in intron 01 of GPR98: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice … (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 rs368604803...

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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 Jul 07, 2021