NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del) 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:: RCV003331539.2

Allele description [Variation Report for NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)]

NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)

HGVS:

NC_000007.14:g.100647493TTC[2]
NM_016188.5:c.703AAG[2]MANE SELECT
NP_057272.1:p.Lys237del
NC_000007.13:g.100245116TTC[2]
NM_016188.4:c.709_711del
NR_134539.2:n.797AAG[2]

Protein change:

K237del

Links:

dbSNP: rs755552228

Molecular consequence:

NM_016188.5:c.703AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_134539.2:n.797AAG[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003920667	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

SCV003920667

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, SCV003920667.1

#	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: Jun 14, 2025

ClinVar

Relating variation to medicine