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NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001535506.10

Allele description [Variation Report for NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)]

NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
Other names:
USH2A, CYS759PHE (rs80338902); NP_996816.3:p.(Cys759Phe)
HGVS:
  • NC_000001.11:g.216247118C>A
  • NG_009497.2:g.181331G>T
  • NM_007123.6:c.2276G>T
  • NM_206933.4:c.2276G>TMANE SELECT
  • NP_009054.5:p.Cys759Phe
  • NP_009054.6:p.Cys759Phe
  • NP_996816.3:p.Cys759Phe
  • NC_000001.10:g.216420460C>A
  • NG_009497.1:g.181279G>T
  • NM_007123.5:c.2276G>T
  • NM_206933.2(USH2A):c.2276G>T
  • NM_206933.2:c.2276G>T
  • NM_206933.3:c.2276G>T
  • O75445:p.Cys759Phe
  • c.2276G>T
  • p.(Cys759Phe)
Protein change:
C759F; CYS759PHE
Links:
UniProtKB: O75445#VAR_025775; OMIM: 608400.0006; dbSNP: rs80338902
NCBI 1000 Genomes Browser:
rs80338902
Molecular consequence:
  • NM_007123.6:c.2276G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.2276G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 2A
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
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749461GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749461.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 12-01-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Nov 10, 2024