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NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup) AND Hearing loss

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 19, 2019
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:
RCV001255162.2

Allele description [Variation Report for NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)]

NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)

Gene:
CLDN9:claudin 9 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)
HGVS:
  • NC_000016.10:g.3013732_3013734dup
  • NM_020982.4:c.370_372dupMANE SELECT
  • NP_066192.1:p.Ile124dup
  • NC_000016.9:g.3063733_3063735dup
  • NM_020982.2:c.370_372dup
  • NM_020982.4:c.370_372dupATCMANE SELECT
Links:
OMIM: 615799.0003; dbSNP: rs773682747
NCBI 1000 Genomes Browser:
rs773682747
Molecular consequence:
  • NM_020982.4:c.370_372dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Hearing loss
Identifiers:
MedGen: C3887873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001431265Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 19, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.

Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M.

Hum Genet. 2019 Oct;138(10):1071-1075. doi: 10.1007/s00439-019-02037-1. Epub 2019 Jun 7.

PubMed [citation]
PMID:
31175426
PMCID:
PMC6745279

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001431265.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 4, 2024