NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) AND Deafness, autosomal recessive 12

Clinical significance:Likely benign (Last evaluated: Oct 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001106134.1

Allele description [Variation Report for NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)]

NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)

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.9014C>G (p.Ala3005Gly)
HGVS:
  • NC_000010.11:g.71810506C>G
  • NG_008835.1:g.418560C>G
  • NM_001171933.1:c.2294C>G
  • NM_001171934.1:c.2294C>G
  • NM_022124.6:c.9014C>GMANE SELECT
  • NP_001165404.1:p.Ala765Gly
  • NP_001165405.1:p.Ala765Gly
  • NP_071407.4:p.Ala3005Gly
  • NC_000010.10:g.73570263C>G
  • NM_022124.5:c.9014C>G
Protein change:
A3005G
Links:
dbSNP: rs188966938
NCBI 1000 Genomes Browser:
rs188966938
Molecular consequence:
  • NM_001171933.1:c.2294C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171934.1:c.2294C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.9014C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001263168Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Oct 16, 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

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH.

Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.

PubMed [citation]
PMID:
26969326
PMCID:
PMC4796320

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001263168.1

#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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Oct 6, 2021

Support Center