NM_020361.5(CPA6):c.809C>T (p.Ala270Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 5, 2018
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:: RCV000180353.8

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000232766	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jul 5, 2018)	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

SCV000232766

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jul 5, 2018)

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	4	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 Eurofins Ntd Llc (ga), SCV000232766.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (2)

#	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		4	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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