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NM_206933.4(USH2A):c.8266del (p.Ser2756fs) AND Usher syndrome type 2A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 26, 2018
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:
RCV000758201.2

Allele description [Variation Report for NM_206933.4(USH2A):c.8266del (p.Ser2756fs)]

NM_206933.4(USH2A):c.8266del (p.Ser2756fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.8266del (p.Ser2756fs)
HGVS:
  • NC_000001.11:g.215879056del
  • NG_009497.1:g.549341del
  • NG_009497.2:g.549393del
  • NM_206933.4:c.8266delMANE SELECT
  • NP_996816.3:p.Ser2756fs
  • NC_000001.10:g.216052398del
  • NM_206933.2:c.8266delA
Protein change:
S2756fs
Links:
dbSNP: rs1558141330
NCBI 1000 Genomes Browser:
rs1558141330
Molecular consequence:
  • NM_206933.4:c.8266del - 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
SCV000886512Sema4, Sema4
no assertion criteria provided
Likely pathogenic
(Oct 26, 2018) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Sema4, Sema4, SCV000886512.1

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

Last Updated: Apr 23, 2022