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NM_004004.6(GJB2):c.313_326del (p.Lys105fs) AND Hearing loss

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 13, 2014
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:
RCV000678878.9

Allele description [Variation Report for NM_004004.6(GJB2):c.313_326del (p.Lys105fs)]

NM_004004.6(GJB2):c.313_326del (p.Lys105fs)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
HGVS:
  • NC_000013.11:g.20189258_20189271del
  • NG_008358.1:g.8707_8720del
  • NM_004004.6:c.313_326delMANE SELECT
  • NP_003995.2:p.Lys105fs
  • LRG_1350t1:c.313_326del
  • LRG_1350:g.8707_8720del
  • LRG_1350p1:p.Lys105fs
  • NC_000013.10:g.20763397_20763410del
  • NC_000013.10:g.20763397_20763410delCTTGATGAACTTCC
  • NM_004004.5:c.313_326delAAGTTCATCAAGGG
  • NM_004004.6:c.313_326delAAGTTCATCAAGGGMANE SELECT
  • c.313_326del
  • c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs*5)
  • p.Lys105Glyfs*5
  • p.Lys105fs
Protein change:
K105fs
Links:
OMIM: 121011.0034; dbSNP: rs111033253
NCBI 1000 Genomes Browser:
rs111033253

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
SCV000805071Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Nov 13, 2014) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000805071.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024