NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Jun 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667924.1

Allele description [Variation Report for NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)]

NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
HGVS:
  • NC_000001.11:g.215648686G>T
  • NG_009497.1:g.779711C>A
  • NG_009497.2:g.779763C>A
  • NM_206933.4:c.14424C>AMANE SELECT
  • NP_996816.3:p.Cys4808Ter
  • NC_000001.10:g.215822028G>T
  • NM_206933.2:c.14424C>A
Protein change:
C4808*
Links:
dbSNP: rs1553250184
NCBI 1000 Genomes Browser:
rs1553250184
Molecular consequence:
  • NM_206933.4:c.14424C>A - nonsense - [Sequence Ontology: SO:0001587]

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
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000792449Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 23, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R.

PLoS One. 2014;9(9):e107326. doi: 10.1371/journal.pone.0107326.

PubMed [citation]
PMID:
25211151
PMCID:
PMC4161397

Details of each submission

From Counsyl, SCV000792449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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