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NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) AND Usher syndrome type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 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:
RCV001827174.1

Allele description [Variation Report for NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)]

NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)
HGVS:
  • NC_000001.11:g.215759670_215759677del
  • NG_009497.1:g.668722_668729del
  • NG_009497.2:g.668774_668781del
  • NM_206933.4:c.11216_11223delMANE SELECT
  • NP_996816.3:p.Leu3739fs
  • NC_000001.10:g.215933012_215933019del
  • NM_206933.2:c.11216_11223delTGGAGCCC
Protein change:
L3739fs
Links:
dbSNP: rs1571657777
NCBI 1000 Genomes Browser:
rs1571657777
Molecular consequence:
  • NM_206933.4:c.11216_11223del - 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
SCV002088336Natera, Inc.
no assertion criteria provided
Pathogenic
(Jul 30, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002088336.1

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

Last Updated: Apr 23, 2022