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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 30, 2022
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:
RCV002504737.4

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)

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
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002805172Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 30, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002805172.1

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

Last Updated: Nov 10, 2024