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NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 15, 2019)
Last evaluated:
Nov 7, 2018
Accession:
VCV000143174.2
Variation ID:
143174
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)

Allele ID
152892
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215671258 (GRCh38) GRCh38 UCSC
1: 215844600 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
O75445:p.Gly4616Val
NC_000001.10:g.215844600C>A
NC_000001.11:g.215671258C>A
... more HGVS
Protein change
G4616V
Other names
-
Canonical SPDI
NC_000001.11:215671257:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA270143
UniProtKB: O75445#VAR_072050
dbSNP: rs527236124
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 criteria provided, single submitter Nov 7, 2018 RCV001075191.1
Likely pathogenic 1 no assertion criteria provided - RCV000132705.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3428 4027

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 07, 2018)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240804.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Retinitis pigmentosa
Allele origin: not provided
Department of Ophthalmology and Visual Sciences Kyoto University
Accession: SCV000172658.1
Submitted: (Jul 29, 2014)
Evidence details
Comment:
Converted during submission to Likely pathogenic.

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 rs527236124...

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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 Oct 24, 2021