NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs) AND Usher syndrome, type 2A

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000002454.5

Allele description [Variation Report for NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)]

NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)
HGVS:
  • NC_000001.11:g.216422097_216422098insATCG
  • NG_009497.1:g.6300_6301insGATC
  • NG_009497.2:g.6352_6353insGATC
  • NM_007123.6:c.240_241insGATC
  • NM_206933.4:c.240_241insGATCMANE SELECT
  • NP_009054.6:p.Gln81fs
  • NP_996816.3:p.Gln81fs
  • NC_000001.10:g.216595439_216595440insATCG
  • NM_206933.2:c.240_241insGATC
  • c.239-240insGTAC
  • p.T80fsX28
Protein change:
Q81fs
Links:
OMIM: 608400.0010; dbSNP: rs587776538
NCBI 1000 Genomes Browser:
rs587776538
Molecular consequence:
  • NM_007123.6:c.240_241insGATC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.240_241insGATC - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022612OMIMno assertion criteria providedPathogenic
(Feb 1, 2007)
germlineliterature only

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

SCV000106040FirmaLab,FirmaLabno assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing, literature only

Citations

PubMed

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

Kaiserman N, Obolensky A, Banin E, Sharon D.

Arch Ophthalmol. 2007 Feb;125(2):219-24. Erratum in: Arch Ophthalmol. 2007 Aug;125(8):1013.

PubMed [citation]
PMID:
17296898

Details of each submission

From OMIM, SCV000022612.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a consanguineous family of Iraqi Jewish origin in which some members had Usher syndrome type IIa (USH2A; 276901) and others had nonsyndromic retinitis pigmentosa (RP39; 613809), Kaiserman et al. (2007) identified compound heterozygosity for 2 null mutations in the USH2A gene in those affected with USH2A: a 4-bp insertion (239_242insCGAT) resulting in a frameshift at position 80 (Thr80fs), and a 2209C-T transition resulting in an arg737-to-ter (R737X; 608400.0011) substitution. In those affected with nonsyndromic RP, they identified compound heterozygosity for one of the null mutations and a 14021A-G transition resulting in an arg4674-to-gly substitution (R4674G; 608400.0012).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From FirmaLab,FirmaLab, SCV000106040.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000327733)
not provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided
(GTR000327733)
not providednot providednot providednot provided

Last Updated: Nov 27, 2021

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