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NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Feb 6, 2020)
Last evaluated:
Dec 29, 2019
Accession:
VCV000178370.3
Variation ID:
178370
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)

Allele ID
174328
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90805383 (GRCh38) GRCh38 UCSC
5: 90101200 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90805383G>A
NC_000005.9:g.90101200G>A
NM_032119.4:c.14761G>A MANE Select NP_115495.3:p.Ala4921Thr missense
... more HGVS
Protein change
A4921T
Other names
-
Canonical SPDI
NC_000005.10:90805382:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00075
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00050
The Genome Aggregation Database (gnomAD) 0.00045
Trans-Omics for Precision Medicine (TOPMed) 0.00061
Exome Aggregation Consortium (ExAC) 0.00041
Links
ClinGen: CA182198
dbSNP: rs200115167
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Dec 29, 2019 RCV000724660.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 31, 2018 RCV000155116.4
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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
(Mar 20, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232408.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 24, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000204802.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala4921Thr in exon 72 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.1% (8/8218) of … (more)
Uncertain significance
(Jul 31, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157334.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The ADGRV1 c.14761G>A; p.Ala4921Thr variant (rs200115167), to our knowledge, has not been reported in the medical literature; however, it is listed in the ClinVar database … (more)
Uncertain significance
(Dec 29, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001222928.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces alanine with threonine at codon 4921 of the ADGRV1 protein (p.Ala4921Thr). The alanine residue is weakly conserved and there is a … (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 rs200115167...

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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