NM_004004.6(GJB2):c.299_300del (p.His100fs) 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:: RCV003313933.8

Allele description [Variation Report for NM_004004.6(GJB2):c.299_300del (p.His100fs)]

NM_004004.6(GJB2):c.299_300del (p.His100fs)

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.299_300del (p.His100fs)

HGVS:

NC_000013.11:g.20189282_20189283del
NG_008358.1:g.8693_8694del
NM_004004.6:c.299_300delMANE SELECT
NP_003995.2:p.His100fs
LRG_1350t1:c.299_300del
LRG_1350:g.8693_8694del
LRG_1350p1:p.His100fs
NC_000013.10:g.20763421_20763422del
NC_000013.10:g.20763421_20763422delAT
NC_000013.11:g.20189282_20189283delAT
NM_004004.5:c.299_300del
NM_004004.5:c.299_300delAT
NM_004004.6:c.299_300delATMANE SELECT
c.299_300delAT
p.His100fs

Protein change:

H100fs

Links:

dbSNP: rs111033204

NCBI 1000 Genomes Browser:

rs111033204

Molecular consequence:

NM_004004.6:c.299_300del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004013886	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

SCV004013886

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	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Gene Friend Way, National Innovation Center, SCV004013886.2

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

Description

Carriers of this GJB2 His100fs mutation in our study were diagnosed with ASD with little or no responses when called. Harmful mutation in the GJB2 genes were previously reported to associated with nonsyndromic hearing loss (Bartolotta et al., 2014, Wei et al., 2014).

#	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		1	not provided	1	not provided

Last Updated: Jun 29, 2024

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