NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) AND Childhood epilepsy with centrotemporal spikes

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2017
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:: RCV000656016.3

Allele description [Variation Report for NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)]

NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)

Gene:

CPA6:carboxypeptidase A6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.2

Genomic location:

Preferred name:

NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)

HGVS:

NC_000008.11:g.67506866T>C
NG_027682.1:g.244520A>G
NM_020361.5:c.557A>GMANE SELECT
NP_065094.3:p.Lys186Arg
NC_000008.10:g.68419101T>C
NM_020361.4:c.557A>G

Protein change:

K186R

Links:

dbSNP: rs199576384

NCBI 1000 Genomes Browser:

rs199576384

Molecular consequence:

NM_020361.5:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Childhood epilepsy with centrotemporal spikes
Synonyms:: Rolandic epilepsy
Identifiers:: MONDO: MONDO:0007295; MedGen: C0376532; Orphanet: 1945

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000588292	Bioinformatics Core, Luxembourg Center for Systems Biomedicine - EUROEPINOMICS COGIE	no assertion criteria provided	Pathogenic (Jan 1, 2017)	germline	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000588292

Bioinformatics Core, Luxembourg Center for Systems Biomedicine - EUROEPINOMICS COGIE

no assertion criteria provided

Pathogenic
(Jan 1, 2017)

germline

case-control

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, et al.

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

PubMed [citation]

PMID:: 29358611
PMCID:: PMC5839048

Details of each submission

From Bioinformatics Core, Luxembourg Center for Systems Biomedicine - EUROEPINOMICS COGIE, SCV000588292.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)

Description

CAADphred>15

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 30, 2023

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