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NM_022124.6(CDH23):c.1515-12G>A AND Usher syndrome type 1D

Germline classification:
Uncertain significance (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:
RCV000678531.2

Allele description [Variation Report for NM_022124.6(CDH23):c.1515-12G>A]

NM_022124.6(CDH23):c.1515-12G>A

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.1515-12G>A
HGVS:
  • NC_000010.11:g.71677444G>A
  • NG_008835.1:g.285498G>A
  • NM_001171930.2:c.1515-12G>A
  • NM_001171931.2:c.1515-12G>A
  • NM_022124.6:c.1515-12G>AMANE SELECT
  • NC_000010.10:g.73437201G>A
  • NM_022124.5:c.1515-12G>A
  • NM_022124.6(CDH23):c.1515-12G>AMANE SELECT
Links:
dbSNP: rs369396703
NCBI 1000 Genomes Browser:
rs369396703
Molecular consequence:
  • NM_001171930.2:c.1515-12G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171931.2:c.1515-12G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022124.6:c.1515-12G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Usher syndrome type 1D (USH1D)
Synonyms:
USHER SYNDROME, TYPE ID
Identifiers:
MONDO: MONDO:0010984; MedGen: C1832845; Orphanet: 231169; Orphanet: 886; OMIM: 601067

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804605Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Uncertain significance
(Sep 1, 2016) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804605.2

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

Last Updated: Dec 30, 2023