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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Campylopus brevirameus isolate C218 internal transcribed spacer 1, partial seque...
Campylopus brevirameus isolate C218 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequence
gi|62907189|gb|AY925206.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001325622	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21922598, 23105115 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001325622

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 28, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

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

Last Updated: Oct 13, 2024

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