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NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 30, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000046344.9
Variation ID:
46344
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)

Allele ID
55509
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90683874 (GRCh38) GRCh38 UCSC
5: 89979691 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q8WXG9:p.Asn1985Asp
LRG_1095:g.159531A>G
LRG_1095t1:c.5953A>G LRG_1095p1:p.Asn1985Asp
... more HGVS
Protein change
N1985D
Other names
p.N1985D:AAC>GAC
Canonical SPDI
NC_000005.10:90683873:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.27676 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.18921
Trans-Omics for Precision Medicine (TOPMed) 0.20849
Trans-Omics for Precision Medicine (TOPMed) 0.20838
1000 Genomes Project 0.27676
Links
ClinGen: CA138159
UniProtKB: Q8WXG9#VAR_026000
dbSNP: rs41303352
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 7 criteria provided, multiple submitters, no conflicts Apr 25, 2014 RCV000039600.14
Benign 2 criteria provided, multiple submitters, no conflicts Aug 10, 2021 RCV001151461.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001515554.1
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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
2423 2454

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 01, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063289.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Asn1985Asp in exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it is listed in dbSNP with a heterozygous … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001723648.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000314868.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 08, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168704.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Apr 25, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202820.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001312589.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001933917.1
Submitted: (Sep 21, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000193276.1
Submitted: (Sep 11, 2014)
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742468.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954350.1
Submitted: (Sep 30, 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 rs41303352...

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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 Nov 27, 2021