U.S. flag

An official website of the United States government

NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) AND Progressive cone dystrophy (without rod involvement)

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Dec 1, 2023
Review status:
no classifications from unflagged records
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:
RCV000787896.10

Allele description [Variation Report for NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)]

NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)

Genes:
LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
Other names:
NM_206933.2(USH2A):c.2522C>A
HGVS:
  • NC_000001.11:g.216246872G>T
  • NG_009497.2:g.181577C>A
  • NG_076570.1:g.246G>T
  • NM_007123.6:c.2522C>A
  • NM_206933.4:c.2522C>AMANE SELECT
  • NP_009054.5:p.Ser841Tyr
  • NP_009054.6:p.Ser841Tyr
  • NP_996816.2:p.Ser841Tyr
  • NP_996816.3:p.Ser841Tyr
  • NC_000001.10:g.216420214G>T
  • NG_009497.1:g.181525C>A
  • NM_007123.5:c.2522C>A
  • NM_206933.2:c.2522C>A
  • NM_206933.3:c.2522C>A
  • O75445:p.Ser841Tyr
  • c.2522C>A
Protein change:
S841Y
Links:
UniProtKB: O75445#VAR_025777; dbSNP: rs111033282
NCBI 1000 Genomes Browser:
rs111033282
Molecular consequence:
  • NM_007123.6:c.2522C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.2522C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive cone dystrophy (without rod involvement)
Identifiers:
MedGen: C0271092

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]
PMID:
30718709
PMCID:
PMC6362094

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926914.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000926914Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD
flagged submission
Reason: Conflicts with expert reviewed submission without evidence to support different classification
Notes: None
Uncertain significance
(Apr 1, 2018) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Last Updated: Nov 3, 2024