U.S. flag

An official website of the United States government

NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter) AND Usher syndrome type 2A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 29, 2021
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:
RCV002310316.2

Allele description [Variation Report for NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)]

NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
HGVS:
  • NC_000001.11:g.216247125T>A
  • NG_009497.2:g.181324A>T
  • NM_007123.6:c.2269A>T
  • NM_206933.4:c.2269A>TMANE SELECT
  • NP_009054.6:p.Lys757Ter
  • NP_996816.3:p.Lys757Ter
  • NC_000001.10:g.216420467T>A
Protein change:
K757*
Molecular consequence:
  • NM_007123.6:c.2269A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_206933.4:c.2269A>T - 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
SCV002602300Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Dec 29, 2021) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602300.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_206933.2(USH2A):c.2269A>T(K757*) is expected to be pathogenic in the context of USH2A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in USH2A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 30, 2023