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NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs) AND Usher syndrome type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2021
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:
RCV001822898.1

Allele description [Variation Report for NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs)]

NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs)
HGVS:
  • NC_000001.11:g.216046462_216046466del
  • NG_009497.2:g.381985_381989del
  • NM_206933.4:c.6292_6296delMANE SELECT
  • NP_996816.3:p.Tyr2098fs
  • NC_000001.10:g.216219804_216219808del
  • NG_009497.1:g.381933_381937del
  • NM_206933.2:c.6292_6296del
Protein change:
Y2098fs
Links:
dbSNP: rs2102524828
NCBI 1000 Genomes Browser:
rs2102524828
Molecular consequence:
  • NM_206933.4:c.6292_6296del - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001762427WangQJ Lab, Chinese People's Liberation Army General Hospital
no assertion criteria provided
Pathogenic
(Jul 1, 2021) 		maternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV001762427.1

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

Last Updated: Dec 24, 2023