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NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(4);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Sep 29, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000046311.8
Variation ID:
46311
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)

Allele ID
55476
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90647626 (GRCh38) GRCh38 UCSC
5: 89943443 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.89943443G>T
NC_000005.10:g.90647626G>T
NG_007083.2:g.123283G>T
... more HGVS
Protein change
D1051Y
Other names
-
Canonical SPDI
NC_000005.10:90647625:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00166
Trans-Omics for Precision Medicine (TOPMed) 0.00158
Exome Aggregation Consortium (ExAC) 0.00219
Trans-Omics for Precision Medicine (TOPMed) 0.00171
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00199
The Genome Aggregation Database (gnomAD) 0.00195
The Genome Aggregation Database (gnomAD), exomes 0.00205
1000 Genomes Project 0.00240
Links
ClinGen: CA138096
dbSNP: rs145556097
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 21, 2017 RCV000039567.8
Uncertain significance 1 criteria provided, single submitter Aug 27, 2013 RCV000146076.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001151210.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 5, 2020 RCV000954913.5
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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
Likely benign
(Dec 21, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063256.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
p.Asp1051Tyr in exon 17 of ADGRV1: This variant is not expected to have clinical significance because it has been identified in 0.29% (369/126480) of European … (more)
Uncertain significance
(Aug 27, 2013)
criteria provided, single submitter
Method: clinical testing
Febrile seizures, familial, 4
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000193259.1
Submitted: (Sep 11, 2014)
Evidence details
Uncertain significance
(Oct 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475509.1
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (2)
Likely benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001101580.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321750.8
Submitted: (Sep 29, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 23804846, 30180840, 22334370)
Likely benign
(Sep 22, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000226683.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001312322.1
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)

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
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes. Lewis MA BMC medical genomics 2018 PMID: 30180840
Next-generation genetic testing for retinitis pigmentosa. Neveling K Human mutation 2012 PMID: 22334370
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ADGRV1 - - - -

Text-mined citations for rs145556097...

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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