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NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jul 20, 2021)
Last evaluated:
Dec 30, 2020
Accession:
VCV000046347.7
Variation ID:
46347
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)

Allele ID
55512
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90684016 (GRCh38) GRCh38 UCSC
5: 89979833 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.89979833C>T
LRG_1095:g.159673C>T
LRG_1095t1:c.6095C>T LRG_1095p1:p.Ala2032Val
... more HGVS
Protein change
A2032V
Other names
-
Canonical SPDI
NC_000005.10:90684015:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00082
Trans-Omics for Precision Medicine (TOPMed) 0.00284
The Genome Aggregation Database (gnomAD) 0.00306
The Genome Aggregation Database (gnomAD), exomes 0.00068
1000 Genomes Project 0.00419
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00295
Links
dbSNP: rs142013761
ClinGen: CA138165
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Apr 25, 2014 RCV000039603.5
Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 30, 2020 RCV000514078.7
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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
2244 2275

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000063292.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala2032Val in Exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (27/2988) of … (more)
Likely benign
(Dec 30, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000969513.2
Submitted: (Jul 20, 2021)
Evidence details
Likely benign
(Feb 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610786.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Apr 25, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202822.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Sep 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001142937.1
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001103046.3
Submitted: (Jan 07, 2021)
Evidence details

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 rs142013761...

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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 Sep 12, 2021