NM_004004.6(GJB2):c.235del (p.Leu79fs) AND Autism spectrum disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 28, 2023
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:: RCV003313925.8

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

Observations:

Condition(s)

Name:: Autism spectrum disorder
Synonyms:: Autism spectrum disorders
Identifiers:: MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004013882	Gene Friend Way, National Innovation Center	no assertion criteria provided	Pathogenic (Jul 28, 2023)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004013882

Gene Friend Way, National Innovation Center

no assertion criteria provided

Pathogenic
(Jul 28, 2023)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	4	4	not provided	not provided	not provided	clinical testing

Details of each submission

From Gene Friend Way, National Innovation Center, SCV004013882.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

Description

Among 16 children with non-syndromic sensorineural hearing loss and carried GJB2 mutations, 44% had additional disabilities, including specific learning disability, apraxia, epileptiform aphasia, attention deficit disorder, global developmental delay, and gross motor delay (PMID: 16154643). In our study, four children diagnosed with Autism Spectrum Disorder are carriers of this rs80338943 mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		4	not provided	4	not provided

Last Updated: Nov 3, 2024

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