Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000046314.7
Variation ID:
46314
Description:
single nucleotide variant
Help

NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)

Allele ID
55479
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90617923 (GRCh38) GRCh38 UCSC
5: 89913740 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90617923C>T
NC_000005.9:g.89913740C>T
NG_007083.2:g.93580C>T
... more HGVS
Protein change
-
Other names
p.D109D:GAC>GAT
Canonical SPDI
NC_000005.10:90617922:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.02955 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00537
1000 Genomes Project 0.02955
The Genome Aggregation Database (gnomAD) 0.02377
Trans-Omics for Precision Medicine (TOPMed) 0.02484
Trans-Omics for Precision Medicine (TOPMed) 0.02538
The Genome Aggregation Database (gnomAD) 0.02062
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02085
Links
ClinGen: CA138102
dbSNP: rs61753944
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Mar 21, 2014 RCV000039570.8
Benign 2 criteria provided, multiple submitters, no conflicts Nov 25, 2020 RCV000710445.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001152782.1
Benign 1 criteria provided, single submitter Jan 5, 2020 RCV001285151.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 07, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063259.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
"Asp109Asp in Exon 03 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, … (more)
Benign
(Mar 21, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168735.10
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
(Jan 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840664.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jan 05, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001471543.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001720074.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001314014.1
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 specified
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000193262.1
Submitted: (Sep 11, 2014)
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Evidence details

Functional evidence

Help
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

Help
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 rs61753944...

Help
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