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NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) AND Autosomal recessive nonsyndromic hearing loss 12

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000263856.13

Allele description [Variation Report for NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)]

NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)

Genes:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
HGVS:
  • NC_000010.11:g.71730514A>G
  • NG_008835.1:g.338568A>G
  • NM_001168390.2:c.-6+7214T>C
  • NM_001171930.2:c.3625A>G
  • NM_022124.6:c.3625A>GMANE SELECT
  • NM_022124.6:c.3625A>G
  • NP_001165401.1:p.Thr1209Ala
  • NP_071407.4:p.Thr1209Ala
  • NC_000010.10:g.73490271A>G
  • NM_022124.4:c.3625A>G
  • NM_022124.5:c.3625A>G
  • c.3625A>G
Protein change:
T1209A; THR1209ALA
Links:
OMIM: 605516.0013; dbSNP: rs41281314
NCBI 1000 Genomes Browser:
rs41281314
Molecular consequence:
  • NM_001168390.2:c.-6+7214T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171930.2:c.3625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.3625A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000363712Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Likely benign
(Apr 27, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF.

Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.

PubMed [citation]
PMID:
21228398
PMCID:
PMC3740116

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, et al.

Am J Hum Genet. 2002 Aug;71(2):262-75. Epub 2002 Jun 19.

PubMed [citation]
PMID:
12075507
PMCID:
PMC379159

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000363712.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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: May 12, 2024