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NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV000227388.4
Variation ID:
227388
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)

Allele ID
229321
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90627571 (GRCh38) GRCh38 UCSC
5: 89923388 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1095:g.103228C>A
NC_000005.9:g.89923388C>A
NC_000005.10:g.90627571C>A
... more HGVS
Protein change
Q345K
Other names
-
Canonical SPDI
NC_000005.10:90627570:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00092
The Genome Aggregation Database (gnomAD), exomes 0.00086
Trans-Omics for Precision Medicine (TOPMed) 0.00049
Exome Aggregation Consortium (ExAC) 0.00119
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00067
Links
ClinGen: CA3338598
dbSNP: rs201236317
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 Feb 19, 2015 RCV000214466.3
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Oct 8, 2020 RCV000725783.4
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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
Uncertain significance
(Feb 12, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000339347.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000981400.1
Submitted: (Apr 12, 2019)
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)
Likely benign
(Feb 19, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270223.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Gln345Lys in exon 7 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (135/66722) of … (more)
Uncertain significance
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001216383.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with lysine at codon 345 of the ADGRV1 protein (p.Gln345Lys). The glutamine residue is moderately conserved and there is a … (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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ADGRV1 - - - -

Text-mined citations for rs201236317...

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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