NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp) AND Usher syndrome, type 2A

Clinical significance:Uncertain significance (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001273710.1

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)

Name:
Usher syndrome, type 2A (USH2A)
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001457080Natera, Inc.no assertion criteria providedUncertain significance
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001457080.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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