NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Jan 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672338.1

Allele description [Variation Report for NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)]

NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)

Genes:
USH2A-AS2:USH2A antisense RNA 2 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
HGVS:
  • NC_000001.11:g.216084747C>T
  • NG_009497.1:g.343650G>A
  • NG_009497.2:g.343702G>A
  • NM_206933.4:c.5118G>AMANE SELECT
  • NP_996816.3:p.Trp1706Ter
  • NC_000001.10:g.216258089C>T
  • NM_206933.2:c.5118G>A
Protein change:
W1706*
Links:
dbSNP: rs1461319754
NCBI 1000 Genomes Browser:
rs1461319754
Molecular consequence:
  • NM_206933.4:c.5118G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000797435Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 25, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000797435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center