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NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 23, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000664928.2

Allele description [Variation Report for NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)]

NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
HGVS:
  • NC_000001.11:g.216199841_216199843del
  • NG_009497.2:g.228607_228609del
  • NM_007123.6:c.3596_3598del
  • NM_206933.4:c.3596_3598delMANE SELECT
  • NP_009054.6:p.Glu1199del
  • NP_996816.3:p.Glu1199del
  • NC_000001.10:g.216373182_216373184del
  • NC_000001.10:g.216373183_216373185del
  • NG_009497.1:g.228555_228557del
  • NM_206933.2:c.3596_3598delAAG
  • NM_206933.4:c.3596_3598delAAGMANE SELECT
Protein change:
E1199del
Links:
dbSNP: rs1294733964
NCBI 1000 Genomes Browser:
rs1294733964
Molecular consequence:
  • NM_007123.6:c.3596_3598del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_206933.4:c.3596_3598del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Usher syndrome type 2A
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000788965Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Dec 23, 2016) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.

Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y.

J Hum Genet. 2014 Sep;59(9):521-8. doi: 10.1038/jhg.2014.65. Epub 2014 Jul 31.

PubMed [citation]
PMID:
25078356

Details of each submission

From Counsyl, SCV000788965.1

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

Last Updated: Apr 7, 2025