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NM_020361.5(CPA6):c.809C>T (p.Ala270Val) AND Familial temporal lobe epilepsy 5

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV001163570.5

Allele description [Variation Report for NM_020361.5(CPA6):c.809C>T (p.Ala270Val)]

NM_020361.5(CPA6):c.809C>T (p.Ala270Val)

Genes:
ARFGEF1-DT:ARFGEF1 divergent transcript [Gene - HGNC]
CPA6:carboxypeptidase A6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q13.2
Genomic location:
Preferred name:
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
HGVS:
  • NC_000008.11:g.67483797G>A
  • NG_027682.1:g.267589C>T
  • NM_020361.5:c.809C>TMANE SELECT
  • NP_065094.3:p.Ala270Val
  • NC_000008.10:g.68396032G>A
  • NM_020361.4:c.809C>T
  • Q8N4T0:p.Ala270Val
Protein change:
A270V; ALA270VAL
Links:
UniProtKB: Q8N4T0#VAR_066947; OMIM: 609562.0001; dbSNP: rs114402678
NCBI 1000 Genomes Browser:
rs114402678
Molecular consequence:
  • NM_020361.5:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial temporal lobe epilepsy 5
Identifiers:
MONDO: MONDO:0013741; MedGen: C3280730; OMIM: 614417

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001325622Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 28, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A.

Hum Mutat. 2012 Jan;33(1):124-35. doi: 10.1002/humu.21613. Epub 2011 Oct 31.

PubMed [citation]
PMID:
21922598

Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.

Sapio MR, Salzmann A, Vessaz M, Crespel A, Lyons PJ, Malafosse A, Fricker LD.

J Biol Chem. 2012 Dec 14;287(51):42900-9. doi: 10.1074/jbc.M112.414094. Epub 2012 Oct 26.

PubMed [citation]
PMID:
23105115
PMCID:
PMC3522286

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001325622.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Oct 13, 2024