NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: May 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674350.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)]

NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
HGVS:
  • NC_000001.11:g.215674704_215674705del
  • NG_009497.1:g.753693_753694del
  • NG_009497.2:g.753745_753746del
  • NM_206933.4:c.13207_13208delMANE SELECT
  • NP_996816.3:p.Gly4403fs
  • NC_000001.10:g.215848045_215848046del
  • NC_000001.10:g.215848046_215848047del
  • NM_206933.2:c.13207_13208del
  • NM_206933.2:c.13207_13208delGG
Protein change:
G4403fs
Links:
dbSNP: rs746447649
NCBI 1000 Genomes Browser:
rs746447649
Molecular consequence:
  • NM_206933.4:c.13207_13208del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Usher syndrome, type 2A (USH2A)
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000799673Counsylcriteria provided, single submitter
Pathogenic
(May 1, 2018)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

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 sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M.

J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1.

PubMed [citation]
PMID:
22135276
PMCID:
PMC3678402
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000799673.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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