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NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) AND Developmental and epileptic encephalopathy, 76

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Feb 5, 2020
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:
RCV001027972.7

Allele description [Variation Report for NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)]

NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)

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.1087C>T (p.Arg363Ter)
HGVS:
  • NC_000007.14:g.100646577G>A
  • NM_016188.5:c.1087C>TMANE SELECT
  • NP_057272.1:p.Arg363Ter
  • NC_000007.13:g.100244200G>A
  • NM_016188.4:c.1087C>T
  • NR_134539.2:n.1181C>T
Protein change:
R363*
Links:
dbSNP: rs755138493
NCBI 1000 Genomes Browser:
rs755138493
Molecular consequence:
  • NR_134539.2:n.1181C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_016188.5:c.1087C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190719Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(Feb 5, 2020)
germlineclinical testing

SCV003920673Houlden Lab, UCL Institute of Neurology
no assertion criteria provided
Pathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing, research

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001190719.1

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

From Houlden Lab, UCL Institute of Neurology, SCV003920673.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2023