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NM_032119.4(ADGRV1):c.4264A>G (p.Ser1422Gly)

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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:
Oct 8, 2020
Accession:
VCV000667560.3
Variation ID:
667560
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.4264A>G (p.Ser1422Gly)

Allele ID
655689
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90653838 (GRCh38) GRCh38 UCSC
5: 89949655 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90653838A>G
NC_000005.9:g.89949655A>G
NM_032119.4:c.4264A>G MANE Select NP_115495.3:p.Ser1422Gly missense
... more HGVS
Protein change
S1422G
Other names
-
Canonical SPDI
NC_000005.10:90653837:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00009
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00013
The Genome Aggregation Database (gnomAD) 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00025
Trans-Omics for Precision Medicine (TOPMed) 0.00045
Links
dbSNP: rs377136573
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 8, 2020 RCV000826329.3
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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
2344 2375

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 12, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000967913.1
Submitted: (Apr 12, 2019)
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)
Uncertain significance
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001384515.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with glycine at codon 1422 of the ADGRV1 protein (p.Ser1422Gly). 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 rs377136573...

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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 Mar 14, 2021