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NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 19, 2020)
Last evaluated:
Dec 10, 2019
Accession:
VCV000917733.1
Variation ID:
917733
Description:
2bp insertion
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NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)

Allele ID
906121
Variant type
Insertion
Variant length
2 bp
Cytogenetic location
1q41
Genomic location
1: 215674445-215674446 (GRCh38) GRCh38 UCSC
1: 215847787-215847788 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215847788_215847789insAC
NC_000001.11:g.215674446_215674447insAC
NG_009497.1:g.753951_753952insTG
... more HGVS
Protein change
G4489fs
Other names
-
Canonical SPDI
NC_000001.11:215674445:C:CAC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1657929865
VarSome
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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 Dec 10, 2019 RCV001174953.1
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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
3407 4062

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 10, 2019)
no assertion criteria provided
Method: research
Usher syndrome, type 2A
Allele origin: germline
National Institute on Deafness and Communication Disorders,National Institutes of Health
Accession: SCV001338414.1
Submitted: (Apr 19, 2020)
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 rs1657929865...

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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