NM_004004.6(GJB2):c.235del (p.Leu79fs) AND Autosomal recessive nonsyndromic hearing loss 1A

delete

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV002286401.8

Allele description

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000041042	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (8) [See all records that cite these PMIDs] 10607953, 10633133, 12384781, 14505035, 16380907, 17505205, 19050930, 20301449

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000041042

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe Ki, Kawase T, Narisawa K, Takasaka T.

Am J Med Genet. 2000 Jan 17;90(2):141-5.

PubMed [citation]

PMID:: 10607953

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ.

J Med Genet. 2000 Jan;37(1):41-3.

PubMed [citation]

PMID:: 10633133
PMCID:: PMC1734448

See all PubMed Citations (8)

Details of each submission

From GeneReviews, SCV000041042.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (8)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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