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NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys)

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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: Jan 7, 2021)
Last evaluated:
Jul 23, 2020
Accession:
VCV000046349.2
Variation ID:
46349
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys)

Allele ID
55514
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90684163 (GRCh38) GRCh38 UCSC
5: 89979980 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90684163C>G
NC_000005.9:g.89979980C>G
NM_032119.4:c.6242C>G MANE Select NP_115495.3:p.Ser2081Cys missense
... more HGVS
Protein change
S2081C
Other names
-
Canonical SPDI
NC_000005.10:90684162:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00021
Exome Aggregation Consortium (ExAC) 0.00012
The Genome Aggregation Database (gnomAD) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00042
1000 Genomes Project 0.00040
Links
ClinGen: CA138169
dbSNP: rs201210744
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 Jan 29, 2013 RCV000039605.2
Uncertain significance 1 criteria provided, single submitter Jul 23, 2020 RCV001366393.1
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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
Likely benign
(Jan 29, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063294.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ser2081Cys in exon 28 of GPR98: This variant is not expected to have clinical si gnificance because serine (Ser) at position 2081 is not conserved … (more)
Uncertain significance
(Jul 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001562694.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with cysteine at codon 2081 of the ADGRV1 protein (p.Ser2081Cys). The serine 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs201210744...

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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