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NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Mar 8, 2017)
Last evaluated:
Feb 1, 2007
Accession:
VCV000002360.1
Variation ID:
2360
Description:
4bp insertion
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NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)

Allele ID
17399
Variant type
Insertion
Variant length
4 bp
Cytogenetic location
1q41
Genomic location
1: 216422096-216422097 (GRCh38) GRCh38 UCSC
1: 216595438-216595439 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216595439_216595440insATCG
NC_000001.11:g.216422097_216422098insATCG
NG_009497.1:g.6300_6301insGATC
... more HGVS
Protein change
Q81fs
Other names
-
Canonical SPDI
NC_000001.11:216422096:G:GATCG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA252241
Genetic Testing Registry (GTR): GTR000327733
OMIM: 608400.0010
dbSNP: rs587776538
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Feb 1, 2007 RCV000002454.5
Pathogenic 1 no assertion criteria provided Feb 1, 2007 RCV000002455.4
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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
3406 4061

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2007)
no assertion criteria provided
Method: literature only
USHER SYNDROME, TYPE IIA
Allele origin: germline
OMIM
Accession: SCV000022612.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 01, 2007)
no assertion criteria provided
Method: literature only
RETINITIS PIGMENTOSA 39
Allele origin: germline
OMIM
Accession: SCV000022613.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Usher syndrome, type 2A
Allele origin: germline
FirmaLab,FirmaLab
Accession: SCV000106040.1
Submitted: (Mar 08, 2017)
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
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Kaiserman N Archives of ophthalmology (Chicago, Ill. : 1960) 2007 PMID: 17296898

Text-mined citations for rs587776538...

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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 Nov 27, 2021