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NM_032119.3(ADGRV1):c.8790del (p.Met2931Trpfs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Feb 1, 2004
Accession:
VCV000006800.1
Variation ID:
6800
Description:
1bp deletion
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NM_032119.3(ADGRV1):c.8790del (p.Met2931Trpfs)

Allele ID
21839
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90708875 (GRCh38) GRCh38 UCSC
5: 90004692 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90708875delC
NC_000005.9:g.90004692delC
NM_032119.3:c.8790del
NP_115495.3:p.Met2931Trpfs
Protein change
-
Other names
ADGRV1, 1-BP DEL, 8790C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 602851.0004
dbSNP: rs796051864
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 1, 2004 RCV000007202.5
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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
754 777

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2004)
no assertion criteria provided
Method: literature only
USHER SYNDROME, TYPE IIC
Allele origin: germline
OMIM
Accession: SCV000027398.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Weston MD American journal of human genetics 2004 PMID: 14740321

Record last updated Jun 17, 2019