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NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 3, 2019
Accession:
VCV000179382.3
Variation ID:
179382
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)

Allele ID
174429
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90558916 (GRCh38) GRCh38 UCSC
5: 89854733 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90558916A>C
NC_000005.9:g.89854733A>C
NM_032119.4:c.21A>C MANE Select NP_115495.3:p.Pro7= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90558915:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA184314
dbSNP: rs727504831
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 Nov 22, 2013 RCV000156171.1
Uncertain significance 1 criteria provided, single submitter Oct 3, 2019 RCV001240093.2
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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
(Nov 22, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205887.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Pro7Pro (c.21A>C) in Exon 1 of GPR98: This variant is not expected to have clini cal significance because it does not alter an amino acid … (more)
Uncertain significance
(Oct 03, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001413016.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change affects codon 7 of the ADGRV1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (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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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 rs727504831...

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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