NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jul 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000668189.1

Allele description [Variation Report for NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)]

NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
HGVS:
  • NC_000001.11:g.216422098_216422101dup
  • NG_009497.1:g.6296_6299dup
  • NG_009497.2:g.6348_6351dup
  • NM_007123.6:c.236_239dup
  • NM_206933.4:c.236_239dupMANE SELECT
  • NP_009054.6:p.Gln81fs
  • NP_996816.3:p.Gln81fs
  • NC_000001.10:g.216595439_216595440insGTAC
  • NC_000001.10:g.216595440_216595443dup
  • NM_206933.2:c.236_239dup
  • NM_206933.2:c.236_239dupGTAC
Protein change:
Q81fs
Links:
dbSNP: rs1553258097
NCBI 1000 Genomes Browser:
rs1553258097
Molecular consequence:
  • NM_007123.6:c.236_239dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.236_239dup - 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
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000792751Counsylcriteria provided, single submitter
Pathogenic
(Jul 12, 2017)
unknownclinical testing

PubMed (2)
[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

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A.

Hum Mutat. 2000 Apr;15(4):388.

PubMed [citation]
PMID:
10738000

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS.

Exp Eye Res. 2001 May;72(5):503-9.

PubMed [citation]
PMID:
11311042

Details of each submission

From Counsyl, SCV000792751.1

#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 25, 2021

Support Center