NM_206933.4(USH2A):c.2299del (p.Glu767fs) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 31, 2018
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:
RCV001000453.11

Allele description [Variation Report for NM_206933.4(USH2A):c.2299del (p.Glu767fs)]

NM_206933.4(USH2A):c.2299del (p.Glu767fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
Other names:
p.Glu767SerfsX21; NP_996816.3:p.(Glu767SerfsTer21)
HGVS:
  • NC_000001.11:g.216247095del
  • NG_009497.2:g.181354del
  • NG_076570.1:g.469del
  • NM_007123.6:c.2299del
  • NM_206933.4:c.2299delMANE SELECT
  • NP_009054.5:p.Glu767fs
  • NP_009054.6:p.Glu767fs
  • NP_996816.3:p.Glu767fs
  • NC_000001.10:g.216420437del
  • NC_000001.10:g.216420437delC
  • NG_009497.1:g.181302del
  • NM_007123.5:c.2299del
  • NM_007123.5:c.2299del
  • NM_007123.5:c.2299delG
  • NM_206933.2:c.2299delG
  • NM_206933.3:c.2299del
  • NM_206933.3:c.2299delG
  • NM_206933.4:c.2299delGMANE SELECT
  • c.2299delG
Note:
NCBI staff reviewed the sequence information reported in PubMed 9624053 Fig. 2B to determine the location of this allele on the current reference sequence.
Protein change:
E767fs
Links:
OMIM: 608400.0001; dbSNP: rs80338903
NCBI 1000 Genomes Browser:
rs80338903
Molecular consequence:
  • NM_007123.6:c.2299del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.2299del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001157289ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(Jul 31, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157289.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Glu767fs variant (rs80338903) has been observed in multiple cohorts of patients with Usher Syndrome, Type II (selected references: Eudy 1998, Dreyer 2001, Aller 2010). It is one of the most common pathogenic alleles of USH2A, and it is estimated that this variant accounts for 16% (Weston 2000) to 76% (Ouyang 2004) of all pathogenic USH2A variant. This variant is listed in the Genome Aggregation Database (gnomAD) database with a frequency in Latino populations of 0.20% (identified in 34 out of 34,442 chromosomes).

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

Last Updated: Nov 3, 2024