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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 2014
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:
RCV000824793.7

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]
Observations:
42

Condition(s)

Name:
Usher syndrome
Synonyms:
Usher Syndromes; Usher's syndrome
Identifiers:
MONDO: MONDO:0019501; MeSH: D052245; MedGen: C0271097; Orphanet: 886; OMIM: PS276900
Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000065508Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Sep 30, 2014) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided6442not providednot providednot providedclinical testing

Citations

PubMed

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

Nájera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millán JM, Ayuso C.

Hum Mutat. 2002 Jul;20(1):76-7.

PubMed [citation]
PMID:
12112664

Mutational spectrum in Usher syndrome type II.

Ouyang XM, Hejtmancik JF, Jacobson SG, Li AR, Du LL, Angeli S, Kaiser M, Balkany T, Liu XZ.

Clin Genet. 2004 Apr;65(4):288-93. Erratum in: Clin Genet. 2004 May;65(5):433. Yam, D [corrected to Yan, D].

PubMed [citation]
PMID:
15025721
See all PubMed Citations (7)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065508.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided64not providednot providedclinical testing PubMed (7)

Description

The p.Glu767fs variant in USH2A is a common pathogenic variant known to be assoc iated with Usher syndrome (Weston 2000, Dreyer 2000, Dreyer 2001, Najera 2002, O uyang 2004, Aller 2004).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided64not provided42not provided

Last Updated: Nov 10, 2024