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NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe) AND Epilepsy, familial focal, with variable foci 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000254604.10

Allele description [Variation Report for NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)]

NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)

Gene:
DEPDC5:DEP domain containing 5, GATOR1 subcomplex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)
HGVS:
  • NC_000022.11:g.31797674A>T
  • NG_034067.1:g.48724A>T
  • NM_001007188.4:c.842A>T
  • NM_001136029.4:c.842A>T
  • NM_001242896.3:c.842A>TMANE SELECT
  • NM_001242897.2:c.842A>T
  • NM_001363852.2:c.842A>T
  • NM_001363854.2:c.842A>T
  • NM_001364318.2:c.842A>T
  • NM_001364319.2:c.842A>T
  • NM_001364320.2:c.842A>T
  • NM_001369901.1:c.758A>T
  • NM_001369902.1:c.758A>T
  • NM_001369903.1:c.842A>T
  • NM_014662.6:c.842A>T
  • NP_001007189.1:p.Tyr281Phe
  • NP_001129501.1:p.Tyr281Phe
  • NP_001229825.1:p.Tyr281Phe
  • NP_001229826.1:p.Tyr281Phe
  • NP_001350781.1:p.Tyr281Phe
  • NP_001350783.1:p.Tyr281Phe
  • NP_001351247.1:p.Tyr281Phe
  • NP_001351248.1:p.Tyr281Phe
  • NP_001351249.1:p.Tyr281Phe
  • NP_001356830.1:p.Tyr253Phe
  • NP_001356831.1:p.Tyr253Phe
  • NP_001356832.1:p.Tyr281Phe
  • NP_055477.1:p.Tyr281Phe
  • NC_000022.10:g.32193660A>T
  • NM_001242896.1:c.842A>T
  • NR_110988.2:n.1048A>T
  • NR_146296.2:n.931A>T
  • NR_157125.2:n.931A>T
  • NR_157126.2:n.931A>T
  • NR_157128.1:n.1048A>T
Protein change:
Y253F
Links:
dbSNP: rs200797928
NCBI 1000 Genomes Browser:
rs200797928
Molecular consequence:
  • NM_001007188.4:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136029.4:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242896.3:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242897.2:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363852.2:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363854.2:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364318.2:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364319.2:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364320.2:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369901.1:c.758A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369902.1:c.758A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369903.1:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014662.6:c.842A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110988.2:n.1048A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146296.2:n.931A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157125.2:n.931A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157126.2:n.931A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157128.1:n.1048A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Epilepsy, familial focal, with variable foci 1 (FFEVF1)
Identifiers:
MONDO: MONDO:0024556; MedGen: C4551983; OMIM: 604364

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000321049GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC.

Neurol Genet. 2015 Aug;1(2):e17. doi: 10.1212/NXG.0000000000000016.

PubMed [citation]
PMID:
27066554
PMCID:
PMC4807908

Details of each submission

From GeneReviews, SCV000321049.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024