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NM_022124.6(CDH23):c.5712+1G>A AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 20, 2012
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:
RCV000039223.5

Allele description [Variation Report for NM_022124.6(CDH23):c.5712+1G>A]

NM_022124.6(CDH23):c.5712+1G>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.5712+1G>A
HGVS:
  • NC_000010.11:g.71785101G>A
  • NG_008835.1:g.393155G>A
  • NM_022124.6:c.5712+1G>AMANE SELECT
  • NC_000010.10:g.73544858G>A
  • NM_022124.5:c.5712+1G>A
  • c.5712+1G>A
Links:
dbSNP: rs397517341
NCBI 1000 Genomes Browser:
rs397517341
Molecular consequence:
  • NM_022124.6:c.5712+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000062907Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Pathogenic
(Feb 20, 2012) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062907.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

The 5712+1G>A variant in CDH23 has not been reported in the literature. The 5712 +1G>A variant is predicted to cause abnormal splicing because the nucleotide sub stitution occurs in the invariant region of the splice consensus sequence. In su mmary, this variant also meets our criteria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Feb 20, 2024