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NM_004004.6(GJB2):c.235del (p.Leu79fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490501.9

Allele description [Variation Report for NM_004004.6(GJB2):c.235del (p.Leu79fs)]

NM_004004.6(GJB2):c.235del (p.Leu79fs)

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.235del (p.Leu79fs)
Other names:
NM_004004.5(GJB2):c.235delC(p.Leu79Cysfs); NM_004004.5(GJB2):c.235delC
HGVS:
  • NC_000013.10:g.20763488delG
  • NC_000013.11:g.20189349del
  • NG_008358.1:g.8629del
  • NM_004004.6:c.235delMANE SELECT
  • NP_003995.2:p.Leu79fs
  • LRG_1350t1:c.235del
  • LRG_1350:g.8629del
  • LRG_1350p1:p.Leu79fs
  • NC_000013.10:g.20763486del
  • NC_000013.10:g.20763486delG
  • NC_000013.10:g.20763488del
  • NC_000013.10:g.20763488del
  • NC_000013.10:g.20763488delG
  • NC_000013.11:g.20189347delG
  • NC_000013.11:g.20189349del
  • NM_004004.5:c.235delC
  • NM_004004.6:c.235_236delinsTMANE SELECT
  • NM_004004.6:c.235delCMANE SELECT
  • c.235delC
  • c.235delC (p.Leu79Cysfs*3)
  • p.Leu79Cysfs*3
  • p.Leu79CysfsX3
  • p.Leu79fs
Protein change:
L79fs
Links:
OMIM: 121011.0014; dbSNP: rs80338943
NCBI 1000 Genomes Browser:
rs80338943

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
Name:
Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:
Deafness, autosomal dominant 3a
Identifiers:
MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267340Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 18, 2016) 		germlinereference population

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Fuse Y, Doi K, Hasegawa T, Sugii A, Hibino H, Kubo T.

Neuroreport. 1999 Jun 23;10(9):1853-7.

PubMed [citation]
PMID:
10501520

Functional study of GJB2 in hereditary hearing loss.

Choung YH, Moon SK, Park HJ.

Laryngoscope. 2002 Sep;112(9):1667-71.

PubMed [citation]
PMID:
12352684
See all PubMed Citations (4)

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267340.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024