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NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter) AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 12, 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:
RCV001073536.2

Allele description [Variation Report for NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)]

NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)
HGVS:
  • NC_000001.11:g.215675208G>A
  • NG_009497.2:g.753241C>T
  • NM_206933.4:c.12703C>TMANE SELECT
  • NP_996816.3:p.Gln4235Ter
  • NC_000001.10:g.215848550G>A
  • NG_009497.1:g.753189C>T
  • NM_206933.2:c.12703C>T
Protein change:
Q4235*
Links:
dbSNP: rs1657976232
NCBI 1000 Genomes Browser:
rs1657976232
Molecular consequence:
  • NM_206933.4:c.12703C>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001239083Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(May 12, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239083.1

#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