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NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000046375.4
Variation ID:
46375
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)

Allele ID
55540
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90694325 (GRCh38) GRCh38 UCSC
5: 89990142 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90694325A>G
NC_000005.9:g.89990142A>G
NM_032119.4:c.7569A>G MANE Select NP_115495.3:p.Thr2523= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90694324:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00025
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00033
Links
ClinGen: CA138216
dbSNP: rs373352597
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 Dec 6, 2010 RCV000039631.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 21, 2020 RCV000726325.4
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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
2158 2189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 10, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343808.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001112961.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Dec 06, 2010)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063320.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Thr2523Thr in exon 33 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue … (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 rs373352597...

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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