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NM_016188.5(ACTL6B):c.695del (p.Pro232fs) 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:
RCV001028077.3

Allele description [Variation Report for NM_016188.5(ACTL6B):c.695del (p.Pro232fs)]

NM_016188.5(ACTL6B):c.695del (p.Pro232fs)

Gene:
ACTL6B:actin like 6B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_016188.5(ACTL6B):c.695del (p.Pro232fs)
HGVS:
  • NC_000007.14:g.100647514del
  • NM_016188.5:c.695delMANE SELECT
  • NP_057272.1:p.Pro232fs
  • NC_000007.13:g.100245137del
  • NM_016188.4:c.695delC
  • NR_134539.2:n.789del
Protein change:
P232fs
Links:
dbSNP: rs779550102
NCBI 1000 Genomes Browser:
rs779550102
Molecular consequence:
  • NM_016188.5:c.695del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_134539.2:n.789del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
ACTL6B-related recessive epilepsy
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190860CHU Sainte-Justine Research Center, University of Montreal
no assertion criteria provided
Likely pathogenic
(Mar 1, 2019)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From CHU Sainte-Justine Research Center, University of Montreal, SCV001190860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024