NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Jun 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667951.1

Allele description [Variation Report for NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)]

NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)

Genes:
USH2A-AS2:USH2A antisense RNA 2 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
Other names:
NM_206933.2(USH2A):c.5581G>A(p.Gly1861Ser); NM_206933.2(USH2A):c.5581G>A
HGVS:
  • NC_000001.11:g.216073292C>T
  • NG_009497.1:g.355105G>A
  • NG_009497.2:g.355157G>A
  • NM_206933.4:c.5581G>AMANE SELECT
  • NP_996816.3:p.Gly1861Ser
  • NC_000001.10:g.216246634C>T
  • NM_206933.2:c.5581G>A
  • O75445:p.Gly1861Ser
  • c.5581G>A
Protein change:
G1861S
Links:
UniProtKB: O75445#VAR_072008; dbSNP: rs375668376
NCBI 1000 Genomes Browser:
rs375668376
Molecular consequence:
  • NM_206933.4:c.5581G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000792480Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 26, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Huang XF, Xiang P, Chen J, Xing DJ, Huang N, Min Q, Gu F, Tong Y, Pang CP, Qu J, Jin ZB.

PLoS One. 2013 May 30;8(5):e63832. doi: 10.1371/journal.pone.0063832. Print 2013.

PubMed [citation]
PMID:
23737954
PMCID:
PMC3667821

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R.

Orphanet J Rare Dis. 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3.

PubMed [citation]
PMID:
26338283
PMCID:
PMC4559966
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000792480.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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