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NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) AND Retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 16, 2019
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:
RCV001074717.2

Allele description [Variation Report for NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)]

NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
HGVS:
  • NC_000001.11:g.216247090G>T
  • NG_009497.2:g.181359C>A
  • NG_076570.1:g.464G>T
  • NM_007123.6:c.2304C>A
  • NM_206933.4:c.2304C>AMANE SELECT
  • NP_009054.6:p.Cys768Ter
  • NP_996816.2:p.Cys768Ter
  • NP_996816.3:p.Cys768Ter
  • NC_000001.10:g.216420432G>T
  • NG_009497.1:g.181307C>A
  • NM_206933.2:c.2304C>A
  • NM_206933.3:c.2304C>A
Protein change:
C768*
Links:
dbSNP: rs886039449
NCBI 1000 Genomes Browser:
rs886039449
Molecular consequence:
  • NM_007123.6:c.2304C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_206933.4:c.2304C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001240310Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Likely pathogenic
(Apr 16, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240310.1

#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: Sep 29, 2024