NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) AND Deafness, autosomal recessive 12

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001107988.1

Allele description [Variation Report for NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)]

NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)

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.6852G>C (p.Leu2284=)
HGVS:
  • NC_000010.11:g.71798376G>C
  • NG_008835.1:g.406430G>C
  • NM_001171933.1:c.132G>C
  • NM_001171934.1:c.132G>C
  • NM_022124.6:c.6852G>CMANE SELECT
  • NP_001165404.1:p.Leu44=
  • NP_001165405.1:p.Leu44=
  • NP_071407.4:p.Leu2284=
  • NC_000010.10:g.73558133G>C
  • NM_022124.5:c.6852G>C
  • c.6852G>C
  • p.Leu2284Leu
Links:
dbSNP: rs56013867
NCBI 1000 Genomes Browser:
rs56013867
Molecular consequence:
  • NM_001171933.1:c.132G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171934.1:c.132G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022124.6:c.6852G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Deafness, autosomal recessive 12 (DFNB12)
Identifiers:
MONDO: MONDO:0011067; MedGen: C1832394; Orphanet: 90636; OMIM: 601386

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001265180Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

Kim SY, Kim AR, Kim NK, Kim MY, Jeon EH, Kim BJ, Han YE, Chang MY, Park WY, Choi BY.

J Transl Med. 2015 Aug 13;13:263. doi: 10.1186/s12967-015-0624-8.

PubMed [citation]
PMID:
26264712
PMCID:
PMC4534105

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001265180.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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