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NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 27, 2020
Accession:
VCV000817925.3
Variation ID:
817925
Description:
1bp duplication
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NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs)

Allele ID
805454
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90683885-90683886 (GRCh38) GRCh38 UCSC
5: 89979702-89979703 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90683888dup
NC_000005.9:g.89979705dup
NM_032119.4:c.5967dup MANE Select NP_115495.3:p.Val1990fs frameshift
... more HGVS
Protein change
V1990fs
Other names
-
Canonical SPDI
NC_000005.10:90683885:AAA:AAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs778288846
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 27, 2020 RCV001009156.3
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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
2158 2189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001168972.1
Submitted: (Oct 15, 2019)
Evidence details
Comment:
The c.5967dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant … (more)
Pathogenic
(Mar 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001199946.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Val1990Serfs*2) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein … (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
Non-USH2A mutations in USH2 patients. Besnard T Human mutation 2012 PMID: 22147658
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Le Quesne Stabej P Journal of medical genetics 2012 PMID: 22135276
GPR98 mutations cause Usher syndrome type 2 in males. Ebermann I Journal of medical genetics 2009 PMID: 19357117

Text-mined citations for rs778288846...

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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 May 10, 2021