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NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 29, 2019)
Last evaluated:
Feb 26, 2019
Accession:
VCV000627434.1
Variation ID:
627434
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)

Allele ID
615794
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90815669 (GRCh38) GRCh38 UCSC
5: 90111486 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90815669G>T
NC_000005.9:g.90111486G>T
NM_032119.4:c.16129G>T MANE Select NP_115495.3:p.Gly5377Ter nonsense
... more HGVS
Protein change
G5377*
Other names
-
Canonical SPDI
NC_000005.10:90815668:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561790371
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Feb 26, 2019 RCV000770810.1
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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
2418 2449

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 26, 2019)
no assertion criteria provided
Method: case-control
Usher syndrome, type 2C
Allele origin: inherited
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital
Accession: SCV000902296.1
Submitted: (Apr 29, 2019)
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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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 rs1561790371...

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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 Jan 25, 2021