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NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 3, 2021)
Last evaluated:
Aug 11, 2021
Accession:
VCV000163574.5
Variation ID:
163574
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)

Allele ID
174301
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90675414 (GRCh38) GRCh38 UCSC
5: 89971231 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.89971231C>G
NC_000005.10:g.90675414C>G
NG_007083.2:g.151071C>G
... more HGVS
Protein change
S1761C
Other names
-
Canonical SPDI
NC_000005.10:90675413:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00073
The Genome Aggregation Database (gnomAD), exomes 0.00018
Trans-Omics for Precision Medicine (TOPMed) 0.00065
The Genome Aggregation Database (gnomAD) 0.00067
1000 Genomes Project 0.00100
Links
ClinGen: CA176191
dbSNP: rs200392821
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 Oct 5, 2013 RCV000150758.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001155222.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Aug 11, 2021 RCV000724365.4
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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
2418 2449

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 17, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228168.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Aug 11, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001830629.1
Submitted: (Sep 03, 2021)
Evidence details
Likely benign
(Oct 05, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000198224.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ser1761Cys in exon 24 of GPR98: This variant is not expected to have clinical s ignificance because it has been identified in 0.2% (9/3956) African … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001316639.1
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)
Likely benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001609509.1
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 rs200392821...

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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 24, 2021