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NM_206933.4(USH2A):c.10211del (p.Pro3404fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Nov 19, 2021)
Last evaluated:
Nov 9, 2021
Accession:
VCV000812452.2
Variation ID:
812452
Description:
1bp deletion
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NM_206933.4(USH2A):c.10211del (p.Pro3404fs)

Allele ID
800433
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215786846 (GRCh38) GRCh38 UCSC
1: 215960188 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215960190del
NC_000001.11:g.215786848del
NG_009497.1:g.641551del
... more HGVS
Protein change
P3404fs
Other names
-
Canonical SPDI
NC_000001.11:215786845:GGG:GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1571686349
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 Jun 23, 2019 RCV001003262.1
Pathogenic 1 no assertion criteria provided Nov 9, 2021 RCV001784544.1
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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
3406 4061

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 23, 2019)
no assertion criteria provided
Method: research
Usher syndrome type 2
Allele origin: inherited
Sharon lab,Hadassah-Hebrew University Medical Center
Accession: SCV001161344.1
Submitted: (Jun 25, 2019)
Evidence details
Pathogenic
(Nov 09, 2021)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002020853.1
Submitted: (Nov 19, 2021)
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 rs1571686349...

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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 28, 2021