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NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg) AND Epilepsy, familial focal, with variable foci 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 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:
RCV000990422.1

Allele description [Variation Report for NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg)]

NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg)

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.779A>G (p.Gln260Arg)
HGVS:
  • NC_000022.11:g.31797611A>G
  • NG_034067.1:g.48661A>G
  • NM_001007188.4:c.779A>G
  • NM_001136029.4:c.779A>G
  • NM_001242896.3:c.779A>GMANE SELECT
  • NM_001242897.2:c.779A>G
  • NM_001363852.2:c.779A>G
  • NM_001363854.2:c.779A>G
  • NM_001364318.2:c.779A>G
  • NM_001364319.2:c.779A>G
  • NM_001364320.2:c.779A>G
  • NM_001369901.1:c.695A>G
  • NM_001369902.1:c.695A>G
  • NM_001369903.1:c.779A>G
  • NM_014662.6:c.779A>G
  • NP_001007189.1:p.Gln260Arg
  • NP_001129501.1:p.Gln260Arg
  • NP_001229825.1:p.Gln260Arg
  • NP_001229826.1:p.Gln260Arg
  • NP_001350781.1:p.Gln260Arg
  • NP_001350783.1:p.Gln260Arg
  • NP_001351247.1:p.Gln260Arg
  • NP_001351248.1:p.Gln260Arg
  • NP_001351249.1:p.Gln260Arg
  • NP_001356830.1:p.Gln232Arg
  • NP_001356831.1:p.Gln232Arg
  • NP_001356832.1:p.Gln260Arg
  • NP_055477.1:p.Gln260Arg
  • NC_000022.10:g.32193597A>G
  • NR_110988.2:n.985A>G
  • NR_146296.2:n.868A>G
  • NR_157125.2:n.868A>G
  • NR_157126.2:n.868A>G
  • NR_157128.1:n.985A>G
Protein change:
Q232R
Links:
dbSNP: rs1601925119
NCBI 1000 Genomes Browser:
rs1601925119
Molecular consequence:
  • NM_001007188.4:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136029.4:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242896.3:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242897.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363852.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363854.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364318.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364319.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364320.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369901.1:c.695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369902.1:c.695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369903.1:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014662.6:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110988.2:n.985A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146296.2:n.868A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157125.2:n.868A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157126.2:n.868A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157128.1:n.985A>G - 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
SCV001141407Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001141407.1

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

Last Updated: Apr 6, 2024