NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000756887.3

Allele description [Variation Report for NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)]

NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)
HGVS:
  • NC_000001.11:g.215867074C>A
  • NG_009497.1:g.561323G>T
  • NG_009497.2:g.561375G>T
  • NM_206933.3:c.8778G>T
  • NM_206933.4:c.8778G>TMANE SELECT
  • NP_996816.2:p.Glu2926Asp
  • NP_996816.3:p.Glu2926Asp
  • NC_000001.10:g.216040416C>A
  • NM_206933.2:c.8778G>T
Protein change:
E2926D
Links:
dbSNP: rs374146074
NCBI 1000 Genomes Browser:
rs374146074
Molecular consequence:
  • NM_206933.3:c.8778G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.8778G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000884855ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jun 2, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884855.1

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

Description

The USH2A c.8778G>T;p.Glu2926Asp variant has not been described in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is listed in the dbSNP variant database (rs374146074) with an allele frequency of 0.001 percent (3/277044 alleles) in the Genome Aggregation Database. The amino acid at this position is moderately conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Considering available information, the clinical significance of this variant cannot be determined with certainty. If this variant is later determined to be pathogenic, this individual would be predicted to be a carrier of autosomal recessive Usher syndrome or retinitis pigmentosa (OMIM#608400).

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

Last Updated: Nov 11, 2021

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