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NM_206933.4(USH2A):c.5776+1G>A AND Usher syndrome type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
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:
RCV001003271.2

Allele description [Variation Report for NM_206933.4(USH2A):c.5776+1G>A]

NM_206933.4(USH2A):c.5776+1G>A

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.5776+1G>A
Other names:
p.p.(=)
HGVS:
  • NC_000001.11:g.216073096C>T
  • NG_009497.2:g.355353G>A
  • NM_206933.4:c.5776+1G>AMANE SELECT
  • NC_000001.10:g.216246438C>T
  • NM_206933.2:c.5776+1G>A
  • NM_206933.3:c.5776+1G>A
Links:
dbSNP: rs876657731
NCBI 1000 Genomes Browser:
rs876657731
Molecular consequence:
  • NM_206933.4:c.5776+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Usher syndrome type 2
Synonyms:
Usher Syndrome, Type II
Identifiers:
MONDO: MONDO:0016484; MedGen: C0339534

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161354Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161354.1

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

Last Updated: Nov 24, 2024