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NM_206933.4(USH2A):c.3934del (p.Ala1312fs) AND Usher syndrome type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 5, 2020
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:
RCV002210931.1

Allele description [Variation Report for NM_206933.4(USH2A):c.3934del (p.Ala1312fs)]

NM_206933.4(USH2A):c.3934del (p.Ala1312fs)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
HGVS:
  • NC_000001.11:g.216198463del
  • NG_009497.2:g.229987del
  • NM_007123.6:c.3934del
  • NM_206933.4:c.3934delMANE SELECT
  • NP_009054.6:p.Ala1312fs
  • NP_996816.3:p.Ala1312fs
  • NC_000001.10:g.216371805del
  • NG_009497.1:g.229935del
  • NM_206933.4:c.3934delGMANE SELECT
Protein change:
A1312fs
Links:
dbSNP: rs2102464166
NCBI 1000 Genomes Browser:
rs2102464166
Molecular consequence:
  • NM_007123.6:c.3934del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.3934del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV002496140Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 5, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Institute of Human Genetics, University Hospital Muenster, SCV002496140.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PVS1,PS5,PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024