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NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 13, 2021)
Last evaluated:
May 19, 2021
Accession:
VCV000046279.10
Variation ID:
46279
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)

Allele ID
55444
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90810731 (GRCh38) GRCh38 UCSC
5: 90106548 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90810731C>T
NC_000005.9:g.90106548C>T
NG_007083.2:g.286388C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90810730:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00018
Exome Aggregation Consortium (ExAC) 0.00023
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00017
1000 Genomes Project 0.00080
Links
ClinGen: CA138045
dbSNP: rs146082509
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 19, 2021 RCV000039535.4
Benign 2 criteria provided, multiple submitters, no conflicts Nov 27, 2020 RCV000909162.6
Uncertain significance 1 criteria provided, single submitter Sep 14, 2017 RCV001074477.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001153321.1
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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
Uncertain significance
(Sep 14, 2017)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240062.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Benign
(Feb 15, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001845346.1
Submitted: (Sep 09, 2021)
Evidence details
Benign
(May 19, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001880705.1
Submitted: (Sep 13, 2021)
Evidence details
Likely benign
(Jun 20, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063224.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Ser5157Ser in exon 74 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and … (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: SCV001314605.1
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)
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001053956.3
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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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 rs146082509...

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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 29, 2021