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Single allele AND Autosomal dominant nonsyndromic hearing loss 56

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2018
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:
RCV000678024.2

Allele description [Variation Report for Single allele]

Genes:
TNFSF8:TNF superfamily member 8 [Gene - OMIM - HGNC]
DELEC1:deleted in esophageal cancer 1 [Gene - OMIM - HGNC]
PAPPA:pappalysin 1 [Gene - OMIM - HGNC]
TNC:tenascin C [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q32-33.1
Genomic location:
Chr9: 117666205 - 119059572 (on Assembly GRCh37)
HGVS:
NC_000009.11:g.117666205_119059572dup

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 56
Synonyms:
Deafness, autosomal dominant 56
Identifiers:
MONDO: MONDO:0014283; MedGen: C3810170; Orphanet: 90635; OMIM: 615629

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804179Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Uncertain significance
(Apr 12, 2018) 		maternalprovider interpretation

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedprovider interpretation

Citations

PubMed

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, et al.

PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549. Print 2013.

PubMed [citation]
PMID:
23936043
PMCID:
PMC3728356

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804179.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (2)

Description

This duplication was identified in a 13 year old male with learning disabilities, ADHD, articulation disorder, and mild dysmorphic features, and was maternally inherited. The patient's mother has a history of depression, anxiety, and five first trimester miscarriages. This duplication includes the entirity of TNC and DEC1, and a portion of PAPPA and TNFSF8. There is no family history of hearing loss. The clinical significance of carrying three copies of these genes is unclear at this time.

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

Last Updated: Dec 11, 2022