NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) AND ACTL6B-related recessive epilepsy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2019
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:: RCV001028082.2

Allele description [Variation Report for NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)]

NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)

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.852C>G (p.Tyr284Ter)

HGVS:

NC_000007.14:g.100647055G>C
NM_016188.5:c.852C>GMANE SELECT
NP_057272.1:p.Tyr284Ter
NC_000007.13:g.100244678G>C
NM_016188.4:c.852C>G
NR_134539.2:n.946C>G

Protein change:

Y284*

Links:

dbSNP: rs141640000

NCBI 1000 Genomes Browser:

rs141640000

Molecular consequence:

NR_134539.2:n.946C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_016188.5:c.852C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: ACTL6B-related recessive epilepsy
Identifiers:

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
SCV001190865	CHU Sainte-Justine Research Center, University of Montreal	no assertion criteria provided	Likely pathogenic (Mar 1, 2019)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190865

CHU Sainte-Justine Research Center, University of Montreal

no assertion criteria provided

Likely pathogenic
(Mar 1, 2019)

germline

research

Help

Summary from all submissions

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

Details of each submission

From CHU Sainte-Justine Research Center, University of Montreal, SCV001190865.1

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine