NM_022124.6(CDH23):c.4105-2A>T AND Usher syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Jan 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001199451.1

Allele description [Variation Report for NM_022124.6(CDH23):c.4105-2A>T]

NM_022124.6(CDH23):c.4105-2A>T

Genes:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.4105-2A>T
HGVS:
  • NC_000010.11:g.71734238A>T
  • NG_008835.1:g.342292A>T
  • NM_001168390.2:c.-6+3490T>A
  • NM_022124.6:c.4105-2A>TMANE SELECT
  • NC_000010.10:g.73493995A>T
  • NC_000010.10:g.73493995A>T
Molecular consequence:
  • NM_001168390.2:c.-6+3490T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022124.6:c.4105-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001162434Molecular Genetics Laboratory,Institute for Ophthalmic Researchcriteria provided, single submitter
Pathogenic
(Jan 9, 2020)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV001162434.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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