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NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 2, 2017
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:
RCV000669839.1

Allele description [Variation Report for NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)]

NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)
HGVS:
  • NC_000001.11:g.215817114A>T
  • NG_009497.1:g.611283T>A
  • NG_009497.2:g.611335T>A
  • NM_206933.4:c.9453T>AMANE SELECT
  • NP_996816.3:p.Tyr3151Ter
  • NC_000001.10:g.215990456A>T
  • NM_206933.2:c.9453T>A
Protein change:
Y3151*
Links:
dbSNP: rs1553265829
NCBI 1000 Genomes Browser:
rs1553265829
Molecular consequence:
  • NM_206933.4:c.9453T>A - 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
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794631Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Oct 2, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R.

Orphanet J Rare Dis. 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3.

PubMed [citation]
PMID:
26338283
PMCID:
PMC4559966

Details of each submission

From Counsyl, SCV000794631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022