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NM_206933.4(USH2A):c.13374del (p.Glu4458fs) AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000504893.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13374del (p.Glu4458fs)]

NM_206933.4(USH2A):c.13374del (p.Glu4458fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
HGVS:
  • NC_000001.10:g.215847879del
  • NC_000001.11:g.215674538del
  • NG_009497.2:g.753912del
  • NM_206933.4:c.13374delMANE SELECT
  • NP_996816.3:p.Glu4458fs
  • NC_000001.10:g.215847879del
  • NC_000001.10:g.215847879delT
  • NC_000001.10:g.215847880del
  • NG_009497.1:g.753860del
  • NM_206933.2:c.13374del
  • NM_206933.2:c.13374delA
  • p.Glu4458AspfsX3
Protein change:
E4458fs
Links:
dbSNP: rs727503715
NCBI 1000 Genomes Browser:
rs727503715
Molecular consequence:
  • NM_206933.4:c.13374del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000598787NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenic
(Jan 1, 2015) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF.

Hum Mutat. 2007 Aug;28(8):781-9.

PubMed [citation]
PMID:
17405132

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598787.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024