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NM_206933.4(USH2A):c.3158-2A>G AND Retinal dystrophy

Germline classification:
Uncertain significance (1 submission)
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:
RCV000225664.1

Allele description [Variation Report for NM_206933.4(USH2A):c.3158-2A>G]

NM_206933.4(USH2A):c.3158-2A>G

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3158-2A>G
HGVS:
  • NC_000001.11:g.216207433T>C
  • NG_009497.2:g.221016A>G
  • NM_007123.6:c.3158-2A>G
  • NM_206933.4:c.3158-2A>GMANE SELECT
  • NC_000001.10:g.216380775T>C
  • NM_206933.2:c.3158-2A>G
Links:
dbSNP: rs878853404
NCBI 1000 Genomes Browser:
rs878853404
Molecular consequence:
  • NM_007123.6:c.3158-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_206933.4:c.3158-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282643Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV000282643.1

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

Last Updated: Jun 23, 2024