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NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) AND Usher syndrome type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2016
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:
RCV000678655.3

Allele description [Variation Report for NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)]

NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
HGVS:
  • NC_000001.11:g.215900168G>A
  • NG_009497.2:g.528281C>T
  • NM_206933.4:c.7501C>TMANE SELECT
  • NP_996816.3:p.Gln2501Ter
  • NC_000001.10:g.216073510G>A
  • NG_009497.1:g.528229C>T
  • NM_206933.2:c.7501C>T
Protein change:
Q2501*
Links:
dbSNP: rs1558151555
NCBI 1000 Genomes Browser:
rs1558151555
Molecular consequence:
  • NM_206933.4:c.7501C>T - nonsense - [Sequence Ontology: SO:0001587]
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
SCV000804746Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Pathogenic
(Sep 1, 2016) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804746.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024