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NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000673442.1

Allele description [Variation Report for NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)]

NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)
HGVS:
  • NC_000001.11:g.215867159T>G
  • NG_009497.1:g.561238A>C
  • NG_009497.2:g.561290A>C
  • NM_206933.4:c.8693A>CMANE SELECT
  • NP_996816.3:p.Tyr2898Ser
  • NC_000001.10:g.216040501T>G
  • NM_206933.2:c.8693A>C
Protein change:
Y2898S
Links:
dbSNP: rs1553270997
NCBI 1000 Genomes Browser:
rs1553270997
Molecular consequence:
  • NM_206933.4:c.8693A>C - 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
SCV000798645Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 16, 2018) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.

Sci Rep. 2016 Jan 25;6:19531. doi: 10.1038/srep19531. Erratum in: Sci Rep. 2016 Apr 22;6:24843. doi: 10.1038/srep24843.

PubMed [citation]
PMID:
26806561
PMCID:
PMC4726392

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

de Castro-Miró M, Pomares E, Lorés-Motta L, Tonda R, Dopazo J, Marfany G, Gonzàlez-Duarte R.

PLoS One. 2014;9(2):e88410. doi: 10.1371/journal.pone.0088410. Erratum in: PLoS One. 2014;9(6):e101641.

PubMed [citation]
PMID:
24516651
PMCID:
PMC3917917

Details of each submission

From Counsyl, SCV000798645.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022