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NM_032119.4(ADGRV1):c.8730+10_8730+11insC

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 16, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000046397.4
Variation ID:
46397
Description:
1bp insertion
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NM_032119.4(ADGRV1):c.8730+10_8730+11insC

Allele ID
55562
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90706404-90706405 (GRCh38) GRCh38 UCSC
5: 90002221-90002222 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90706404_90706405insC
NC_000005.9:g.90002221_90002222insC
NM_032119.4:c.8730+10_8730+11insC MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90706404::C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01298 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.18455
1000 Genomes Project 0.01298
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00106
The Genome Aggregation Database (gnomAD) 0.03550
Links
ClinGen: CA138257
dbSNP: rs377585302
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 19, 2014 RCV000039653.6
Benign 3 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000991490.3
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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
Benign
(Nov 07, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063342.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.8730+10_8730+11insC in intron 38 of GPR98: This variant is not expected to hav e clinical significance because it has been identified in 4.2% (15/358) of … (more)
Likely benign
(Dec 19, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229921.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 02, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001142942.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001720772.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 04, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000729788.2
Submitted: (Jul 16, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ADGRV1 - - - -

Text-mined citations for rs377585302...

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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 Aug 17, 2021