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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:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004013886Gene Friend Way, National Innovation Center
no assertion criteria provided
Pathogenic
(Jul 28, 2023) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Nov 3, 2024