NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs) AND Developmental and epileptic encephalopathy, 42

Germline classification:: Likely pathogenic (1 submission)
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:: RCV002274467.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)]

NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)

HGVS:

NC_000019.10:g.13299034_13299035dup
NG_011569.1:g.212426_212427dup
NM_000068.4:c.2610_2611dup
NM_001127221.2:c.2601_2602dup
NM_001127222.2:c.2598_2599dupMANE SELECT
NM_001174080.2:c.2601_2602dup
NM_023035.3:c.2610_2611dup
NP_000059.3:p.Arg871fs
NP_001120693.1:p.Arg868fs
NP_001120694.1:p.Arg867fs
NP_001167551.1:p.Arg868fs
NP_075461.2:p.Arg871fs
LRG_7:g.212426_212427dup
NC_000019.9:g.13409848_13409849dup

Protein change:

R867fs

Links:

dbSNP: rs2144956340

NCBI 1000 Genomes Browser:

rs2144956340

Molecular consequence:

NM_000068.4:c.2610_2611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127221.2:c.2601_2602dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127222.2:c.2598_2599dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001174080.2:c.2601_2602dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_023035.3:c.2610_2611dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 42 (DEE42)
Synonyms:: Epileptic encephalopathy, early infantile, 42
Identifiers:: MONDO: MONDO:0014917; MedGen: C4310716; OMIM: 617106

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002559192	Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	de novo	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

SCV002559192

Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

de novo

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	de novo	yes	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 Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV002559192.1

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

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

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine