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NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro) AND Epilepsy, familial focal, with variable foci 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 2016
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:
RCV000241152.1

Allele description [Variation Report for NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro)]

NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro)

Gene:
NPRL2:NPR2 like, GATOR1 complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro)
HGVS:
  • NC_000003.12:g.50349690A>G
  • NG_042828.1:g.1057T>C
  • NM_006545.5:c.314T>CMANE SELECT
  • NP_006536.3:p.Leu105Pro
  • NC_000003.11:g.50387121A>G
  • NM_006545.4:c.314T>C
  • Q8WTW4:p.Leu105Pro
Protein change:
L105P; LEU105PRO
Links:
UniProtKB: Q8WTW4#VAR_077122; OMIM: 607072.0003; dbSNP: rs886037965
NCBI 1000 Genomes Browser:
rs886037965
Molecular consequence:
  • NM_006545.5:c.314T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy, familial focal, with variable foci 2 (FFEVF2)
Identifiers:
MONDO: MONDO:0014924; MedGen: C4310709; OMIM: 617116

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000299389OMIM
no assertion criteria provided
Pathogenic
(Sep 21, 2016) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group., Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, et al.

Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12.

PubMed [citation]
PMID:
26505888

Details of each submission

From OMIM, SCV000299389.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 5 members of a 3-generation family (family 5) with familial focal epilepsy with variable foci-2 (FFEVF2; 617116), Ricos et al. (2016) identified a heterozygous c.314T-C transition (c.314T-C, NM_006545.4) in the NPRL2 gene, resulting in an leu105-to-pro (L105P) substitution. One unaffected family member carried the mutation, consistent with incomplete penetrance. The mutation, which was found by exome sequencing, was not found in the dbSNP, Exome Variant Server, or ExAC databases. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Apr 23, 2022