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NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) AND Developmental and epileptic encephalopathy, 76

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000853485.1

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:
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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000996412SIB Swiss Institute of Bioinformatics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 28, 2019) 		unknowncuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, et al.

Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.

PubMed [citation]
PMID:
31031012
PMCID:
PMC6507050

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From SIB Swiss Institute of Bioinformatics, SCV000996412.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

This variant is interpreted as a Likely pathogenic for Epileptic encephalopathy, early infantile, 76, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1-Strong, PM3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022