U.S. flag

An official website of the United States government

NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer) AND Usher syndrome type 2A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 2, 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:
RCV001842269.1

Allele description [Variation Report for NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)]

NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)
HGVS:
  • NC_000001.11:g.215817047_215817048delinsTT
  • NG_009497.2:g.611401_611402delinsAA
  • NM_206933.4:c.9519_9520delinsAAMANE SELECT
  • NP_996816.3:p.Cys3173_Gln3174delinsTer
  • NC_000001.10:g.215990389_215990390delinsTT
  • NG_009497.1:g.611349_611350delinsAA
Links:
dbSNP: rs2102796345
NCBI 1000 Genomes Browser:
rs2102796345
Molecular consequence:
  • NM_206933.4:c.9519_9520delinsAA - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002102472Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 2, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002102472.1

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

Description

This variant was identified as compound heterozygous with NM_206933.4:c.828C>G._x000D_ Criteria applied: PVS1, PM2_SUP

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024