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NM_032119.4(ADGRV1):c.11562C>T (p.Ala3854=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 17, 2020
Accession:
VCV000163599.4
Variation ID:
163599
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.11562C>T (p.Ala3854=)

Allele ID
174315
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90755167 (GRCh38) GRCh38 UCSC
5: 90050984 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90755167C>T
NC_000005.9:g.90050984C>T
NM_032119.4:c.11562C>T MANE Select NP_115495.3:p.Ala3854= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90755166:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00008
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00038
Exome Aggregation Consortium (ExAC) 0.00030
Links
ClinGen: CA176220
dbSNP: rs182115637
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 Apr 30, 2012 RCV000150775.1
Benign 1 criteria provided, single submitter Sep 17, 2020 RCV000940482.3
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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
2305 2336

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely 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: SCV000198270.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala3854Ala in Exon 55 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, … (more)
Benign
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001086345.3
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 rs182115637...

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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