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NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 4, 2021)
Last evaluated:
Mar 1, 2017
Accession:
VCV000870918.6
Variation ID:
870918
Description:
16bp deletion
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NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)

Allele ID
858901
Variant type
Deletion
Variant length
16 bp
Cytogenetic location
1q41
Genomic location
1: 215648656-215648671 (GRCh38) GRCh38 UCSC
1: 215821998-215822013 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215821999_215822014del
NC_000001.11:g.215648657_215648672del
NG_009497.1:g.779726_779741del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:215648655:CGGTCCTTTGCTGCAAC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 1, 2017 RCV001090612.2
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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
3426 4025

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001246238.6
Submitted: (Jul 04, 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.

Record last updated Oct 07, 2021