NM_206933.4(USH2A):c.7468del (p.Ser2490fs) AND Retinal dystrophy

Clinical significance:Pathogenic (Last evaluated: Aug 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001073651.1

Allele description [Variation Report for NM_206933.4(USH2A):c.7468del (p.Ser2490fs)]

NM_206933.4(USH2A):c.7468del (p.Ser2490fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.7468del (p.Ser2490fs)
HGVS:
  • NC_000001.11:g.215900202del
  • NG_009497.1:g.528196del
  • NG_009497.2:g.528248del
  • NM_206933.4:c.7468delMANE SELECT
  • NP_996816.3:p.Ser2490fs
  • NC_000001.10:g.216073543del
  • NC_000001.10:g.216073544del
  • NM_206933.2:c.7468del
Protein change:
S2490fs
Links:
dbSNP: rs1665453379
NCBI 1000 Genomes Browser:
rs1665453379
Molecular consequence:
  • NM_206933.4:c.7468del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001239202Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Aug 2, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001239202

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239202.1

#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: Nov 27, 2021

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