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NM_022124.6(CDH23):c.1986+3A>T AND Autosomal recessive nonsyndromic hearing loss 12

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001542766.2

Allele description [Variation Report for NM_022124.6(CDH23):c.1986+3A>T]

NM_022124.6(CDH23):c.1986+3A>T

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.1986+3A>T
HGVS:
  • NC_000010.11:g.71682575A>T
  • NG_008835.1:g.290629A>T
  • NM_001171930.2:c.1986+3A>T
  • NM_001171931.2:c.1986+3A>T
  • NM_022124.6:c.1986+3A>TMANE SELECT
  • NC_000010.10:g.73442332A>T
Links:
dbSNP: rs2132682822
NCBI 1000 Genomes Browser:
rs2132682822
Molecular consequence:
  • NM_001171930.2:c.1986+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171931.2:c.1986+3A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022124.6:c.1986+3A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 12
Synonyms:
Deafness, autosomal recessive 12
Identifiers:
MONDO: MONDO:0011067; MedGen: C1832394; Orphanet: 90636; OMIM: 601386

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760254Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760254.1

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

Last Updated: Dec 24, 2023