NM_020361.5(CPA6):c.916G>A (p.Val306Ile) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 3, 2022
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:: RCV002060350.1

Allele description [Variation Report for NM_020361.5(CPA6):c.916G>A (p.Val306Ile)]

NM_020361.5(CPA6):c.916G>A (p.Val306Ile)

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.916G>A (p.Val306Ile)

HGVS:

NC_000008.11:g.67434163C>T
NG_027682.1:g.317223G>A
NM_020361.5:c.916G>AMANE SELECT
NP_065094.3:p.Val306Ile
NC_000008.10:g.68346398C>T
NM_020361.4:c.916G>A

Protein change:

V306I

Links:

dbSNP: rs147046973

NCBI 1000 Genomes Browser:

rs147046973

Molecular consequence:

NM_020361.5:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Name:: Febrile seizures, familial, 11 (FEB11)
Synonyms:: CONVULSIONS, FAMILIAL FEBRILE, 11
Identifiers:: MONDO: MONDO:0024566; MedGen: C3280734; OMIM: 614418

Recent activity

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Disease resistance protein (TIR-NBS-LRR class) family [Arabidopsis thaliana]
Disease resistance protein (TIR-NBS-LRR class) family [Arabidopsis thaliana]
gi|15238107|ref|NP_198970.1|

Protein
elongation factor 1-delta isoform X3 [Larimichthys crocea]
elongation factor 1-delta isoform X3 [Larimichthys crocea]
gi|1108990940|ref|XP_019127741.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002496078	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 3, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002496078

Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 3, 2022)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV002496078.1

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

Description

CPA6 NM_020361.4 p.Val306Ile exon 9 (c.916G>A):This variant has not been reported in the literature in individuals with disease but is present in 0.2% (104/41450) of African alleles including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/8-67434163-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:472765). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools suggest that this variant may not impact the protein. In vitro functional studies predict that this variant will impact the protein (Sapio 2012 PMID:23105115). However, these studies may not accurately represent in vivo biological function. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

#	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: Sep 29, 2024

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