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NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)

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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: Mar 21, 2019)
Last evaluated:
Aug 29, 2017
Accession:
VCV000163605.1
Variation ID:
163605
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)

Allele ID
174457
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90776512 (GRCh38) GRCh38 UCSC
5: 90072329 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1095:g.252169C>T
NC_000005.10:g.90776512C>T
NC_000005.9:g.90072329C>T
... more HGVS
Protein change
P4155S
Other names
-
Canonical SPDI
NC_000005.10:90776511:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00014
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00014
Links
ClinGen: CA176231
dbSNP: rs576429729
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 Jun 26, 2017 RCV000150781.2
Uncertain significance 1 criteria provided, single submitter Aug 29, 2017 RCV000728658.1
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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
2158 2189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 29, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000856259.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 26, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000198279.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Pro4155Ser in exon 61 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. … (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 rs576429729...

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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