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NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Apr 8, 2016
Accession:
VCV000197611.1
Variation ID:
197611
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)

Allele ID
194772
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90728830 (GRCh38) GRCh38 UCSC
5: 90024647 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90728830G>T
NC_000005.9:g.90024647G>T
NM_032119.4:c.10323G>T MANE Select NP_115495.3:p.Gly3441= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90728829:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD) 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
Links
ClinGen: CA245868
dbSNP: rs373354231
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 8, 2016 RCV000222142.3
Uncertain significance 1 criteria provided, single submitter Mar 13, 2015 RCV000724619.1
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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
Uncertain significance
(Mar 13, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230822.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270222.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Gly3441Gly in exon 49 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is … (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 rs373354231...

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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