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NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 26, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000770823.1

Allele description [Variation Report for NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)]

NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)
HGVS:
  • NC_000013.11:g.20188978_20189023dup
  • NG_008358.1:g.8954_8999dup
  • NM_004004.6:c.560_605dupMANE SELECT
  • NP_003995.2:p.Cys202Ter
  • LRG_1350t1:c.560_605dup
  • LRG_1350:g.8954_8999dup
  • LRG_1350p1:p.Cys202Ter
  • NC_000013.10:g.20763115_20763116insCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCT
  • NC_000013.10:g.20763117_20763162dup
  • NM_004004.5:c.560_605dup
  • NM_004004.5:c.[560_605dupAGAAGACTGTCTTCACAGTGTTCATGATTGCAGTGTCTGGAATTTG]
Protein change:
C202*
Links:
dbSNP: rs1566528185
NCBI 1000 Genomes Browser:
rs1566528185
Molecular consequence:
  • NM_004004.6:c.560_605dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:
Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902321Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
no assertion criteria provided
Pathogenic
(Feb 26, 2019) 		inheritedcase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyescase-control

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024