NM_206933.4(USH2A):c.387del (p.Phe129fs) AND Retinal dystrophy

Clinical significance:Likely pathogenic (Last evaluated: Jan 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001075571.1

Allele description [Variation Report for NM_206933.4(USH2A):c.387del (p.Phe129fs)]

NM_206933.4(USH2A):c.387del (p.Phe129fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.387del (p.Phe129fs)
HGVS:
  • NC_000001.11:g.216421954del
  • NG_009497.1:g.6447del
  • NG_009497.2:g.6499del
  • NM_007123.6:c.387del
  • NM_206933.4:c.387delMANE SELECT
  • NP_009054.6:p.Phe129fs
  • NP_996816.3:p.Phe129fs
  • NC_000001.10:g.216595292del
  • NC_000001.10:g.216595296del
  • NM_206933.2:c.387del
  • NM_206933.2:c.387delT
Protein change:
F129fs
Links:
dbSNP: rs1484339054
NCBI 1000 Genomes Browser:
rs1484339054
Molecular consequence:
  • NM_007123.6:c.387del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.387del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001241198Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Jan 9, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001241198

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001241198.1

#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

Support Center