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NM_206933.4(USH2A):c.11389+3A>T AND Usher syndrome type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 9, 2017
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:
RCV000515699.1

Allele description [Variation Report for NM_206933.4(USH2A):c.11389+3A>T]

NM_206933.4(USH2A):c.11389+3A>T

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.11389+3A>T
HGVS:
  • NC_000001.11:g.215758592T>A
  • NG_009497.2:g.669857A>T
  • NM_206933.4:c.11389+3A>TMANE SELECT
  • NC_000001.10:g.215931934T>A
  • NG_009497.1:g.669805A>T
  • NM_206933.2:c.11389+3A>T
Links:
dbSNP: rs753886165
NCBI 1000 Genomes Browser:
rs753886165
Molecular consequence:
  • NM_206933.4:c.11389+3A>T - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000579424Rui Chen Lab, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(May 9, 2017) 		germlineresearch

Description

An in vitrominigene system was used to confirm that the variant disrupts splicing

SCV000579424

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Rui Chen Lab, Baylor College of Medicine, SCV000579424.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 7, 2025