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NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(5);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
10 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000046270.18
Variation ID:
46270
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)

Allele ID
55435
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90791138 (GRCh38) GRCh38 UCSC
5: 90086955 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90791138G>A
NC_000005.9:g.90086955G>A
NG_007083.2:g.266795G>A
... more HGVS
Protein change
R4770H
Other names
p.R4770H:CGC>CAC
Canonical SPDI
NC_000005.10:90791137:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00337
Exome Aggregation Consortium (ExAC) 0.00339
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00423
The Genome Aggregation Database (gnomAD) 0.00277
1000 Genomes Project 0.00140
Trans-Omics for Precision Medicine (TOPMed) 0.00403
Links
ClinGen: CA138030
dbSNP: rs41304892
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 5 criteria provided, multiple submitters, no conflicts May 22, 2015 RCV000039526.7
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000710431.12
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001157523.1
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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
2418 2449

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001117315.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840647.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jul 04, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232388.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/clin…
http://www.ncbi.nlm.nih.gov/vari…
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000892413.8
Submitted: (Jul 04, 2021)
Evidence details
Benign
(May 22, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000193239.2
Submitted: (Sep 15, 2015)
Evidence details
Benign
(Mar 14, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168726.10
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 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063215.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Arg4770His in Exon 70 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (45/6636) of … (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: SCV001319111.1
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
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001743300.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001931815.1
Submitted: (Sep 23, 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.

Text-mined citations for rs41304892...

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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 Oct 30, 2021