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NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 8, 2017
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:
RCV000667571.1

Allele description [Variation Report for NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)]

NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
HGVS:
  • NC_000001.11:g.216207413G>A
  • NG_009497.2:g.221036C>T
  • NM_007123.6:c.3176C>T
  • NM_206933.4:c.3176C>TMANE SELECT
  • NP_009054.5:p.Pro1059Leu
  • NP_009054.6:p.Pro1059Leu
  • NP_996816.3:p.Pro1059Leu
  • NC_000001.10:g.216380755G>A
  • NG_009497.1:g.220984C>T
  • NM_007123.5:c.3176C>T
  • NM_206933.2:c.3176C>T
Protein change:
P1059L
Links:
dbSNP: rs547581739
NCBI 1000 Genomes Browser:
rs547581739
Molecular consequence:
  • NM_007123.6:c.3176C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3176C>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
SCV000792048Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jun 8, 2017) 		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

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP.

Exp Eye Res. 2004 Aug;79(2):167-73.

PubMed [citation]
PMID:
15325563

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.

Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V.

PLoS One. 2012;7(8):e43799. doi: 10.1371/journal.pone.0043799. Epub 2012 Aug 29.

PubMed [citation]
PMID:
22952768
PMCID:
PMC3430670

Details of each submission

From Counsyl, SCV000792048.1

#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: Oct 8, 2024