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NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs) AND Usher syndrome type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 18, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000625605.2

Allele description [Variation Report for NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)]

NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)
HGVS:
  • NC_000001.11:g.216247114_216247115del
  • NG_009497.2:g.181334_181335del
  • NG_076570.1:g.488_489del
  • NM_007123.6:c.2279_2280del
  • NM_206933.4:c.2279_2280delMANE SELECT
  • NP_009054.6:p.Asn760fs
  • NP_996816.3:p.Asn760fs
  • NC_000001.10:g.216420456_216420457del
  • NG_009497.1:g.181282_181283del
  • NM_206933.2:c.2279_2280delAT
Protein change:
N760fs
Links:
dbSNP: rs1553320542
NCBI 1000 Genomes Browser:
rs1553320542
Molecular consequence:
  • NM_007123.6:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.2279_2280del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

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  • RecName: Full=E3 ubiquitin-protein ligase UHRF1; AltName: Full=RING-type E3 ubiq...
    RecName: Full=E3 ubiquitin-protein ligase UHRF1; AltName: Full=RING-type E3 ubiquitin transferase UHRF1; AltName: Full=Ubiquitin-like PHD and RING finger domain-containing protein 1; AltName: Full=Ubiquitin-like-containing PHD and RING finger domains protein 1
    gi|410591701|sp|E7EZF3.1|UHRF1_DANR
    Protein
  • Chain B, 16-mer peptide from Nuclear receptor coactivator 1
    Chain B, 16-mer peptide from Nuclear receptor coactivator 1
    gi|1806061729|pdb|6KTN|B
    Protein
  • Bromouracil
    Bromouracil
    5-Bromo-2,4(1H,3H)-pyrimidinedione. Brominated derivative of uracil that acts as an antimetabolite, substituting for thymine in DNA. It is used mainly as an experimental mutag...<br/>Year introduced: 1974(1971)
    MeSH
  • Flucytosine
    Flucytosine
    A fluorinated cytosine analog that is used as an antifungal agent.<br/>Year introduced: 1987(1972)
    MeSH
  • Amobarbital
    Amobarbital
    A barbiturate with hypnotic and sedative properties (but not antianxiety). Adverse effects are mainly a consequence of dose-related CNS depression and the risk of dependence w...<br/>
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000746105Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Pathogenic
(Sep 18, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000746105.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2023