NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter) AND Developmental and epileptic encephalopathy, 76

Germline classification:: Pathogenic (1 submission)
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:: RCV003331534.1

Allele description [Variation Report for NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)]

NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)

Gene:

ACTL6B:actin like 6B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)

HGVS:

NC_000007.14:g.100655109C>T
NM_016188.5:c.279G>AMANE SELECT
NP_057272.1:p.Trp93Ter
NC_000007.13:g.100252732C>T
NM_016188.4:c.279G>A
NR_134539.2:n.373G>A

Protein change:

W93*

Links:

dbSNP: rs2486170751

Molecular consequence:

NR_134539.2:n.373G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_016188.5:c.279G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 76
Synonyms:: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76; DEVELOPMENTAL DELAY, EPILEPTIC ENCEPHALOPATHY, CEREBRAL ATROPHY, AND ABNORMAL MYELINATION
Identifiers:: MONDO: MONDO:0032768; MedGen: C5193113; OMIM: 618468

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003920662	Houlden Lab, UCL Institute of Neurology	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003920662

Houlden Lab, UCL Institute of Neurology

no assertion criteria provided

Pathogenic

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	research

Details of each submission

From Houlden Lab, UCL Institute of Neurology, SCV003920662.1

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

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

Last Updated: May 16, 2025

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