NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000599475.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)]

NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
HGVS:
  • NC_000001.11:g.215674564_215674576delinsCAAG
  • NG_009497.1:g.753821_753833delinsCTTG
  • NG_009497.2:g.753873_753885delinsCTTG
  • NM_206933.4:c.13335_13347delinsCTTGMANE SELECT
  • NP_996816.3:p.Glu4445_Ser4449delinsAspLeu
  • NC_000001.10:g.215847906_215847918delinsCAAG
  • NM_206933.2:c.13335_13347delGAACATGGACTCTinsCTTG
Links:
dbSNP: rs1553252388
NCBI 1000 Genomes Browser:
rs1553252388
Molecular consequence:
  • NM_206933.4:c.13335_13347delinsCTTG - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000709857GeneDxcriteria provided, single submitter
Likely pathogenic
(Feb 5, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000709857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.13335_13347del13insCTTG variant in the USH2A gene has been reported previously in association with nonsyndromic retinitis pigmentosa (McGee et al., 2010). The c.13335_13347del13insCTTG variant causes an in-frame deletion of five amino acids and the insertion of two incorrect amino acids, denoted p.Glu4445_Ser4449delinsAspLeu. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The c.13335_13347del13insCTTG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.13335_13347del13insCTTG as a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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