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NM_006593.4(TBR1):c.581C>T (p.Ser194Phe) AND Seizure

Germline classification:
Uncertain significance (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:
RCV002275924.3

Allele description [Variation Report for NM_006593.4(TBR1):c.581C>T (p.Ser194Phe)]

NM_006593.4(TBR1):c.581C>T (p.Ser194Phe)

Gene:
TBR1:T-box brain transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.2
Genomic location:
Preferred name:
NM_006593.4(TBR1):c.581C>T (p.Ser194Phe)
HGVS:
  • NC_000002.12:g.161416991C>T
  • NG_046904.1:g.5883C>T
  • NM_006593.4:c.581C>TMANE SELECT
  • NP_006584.1:p.Ser194Phe
  • NC_000002.11:g.162273502C>T
  • NM_006593.3:c.581C>T
Protein change:
S194F
Links:
dbSNP: rs2105278528
NCBI 1000 Genomes Browser:
rs2105278528
Molecular consequence:
  • NM_006593.4:c.581C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002562872Diagnostic Laboratory, Strasbourg University Hospital
no assertion criteria provided
Uncertain significancede novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV002562872.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023