NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 20, 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:: RCV002227405.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)]

NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)

Genes:

LOC126862865:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13385818-13387017 [Gene]
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)

HGVS:

NC_000019.10:g.13275891G>T
NG_011569.1:g.235570C>A
NM_000068.4:c.3960C>A
NM_001127221.2:c.3951C>A
NM_001127222.2:c.3948C>AMANE SELECT
NM_001174080.2:c.3951C>A
NM_023035.3:c.3960C>A
NP_000059.3:p.Asp1320Glu
NP_001120693.1:p.Asp1317Glu
NP_001120694.1:p.Asp1316Glu
NP_001167551.1:p.Asp1317Glu
NP_075461.2:p.Asp1320Glu
LRG_7:g.235570C>A
NC_000019.9:g.13386705G>T

Protein change:

D1316E

Links:

dbSNP: rs2144833336

NCBI 1000 Genomes Browser:

rs2144833336

Molecular consequence:

NM_000068.4:c.3960C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127221.2:c.3951C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127222.2:c.3948C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001174080.2:c.3951C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_023035.3:c.3960C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Episodic ataxia type 2 (EA2)
Synonyms:: Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia; Cerebellopathy, hereditary paroxysmal; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007163; MedGen: C1720416; Orphanet: 97; OMIM: 108500

Name:: Spinocerebellar ataxia type 6 (SCA6)
Identifiers:: MONDO: MONDO:0008457; MedGen: C0752124; Orphanet: 98758; OMIM: 183086

Name:: Migraine, familial hemiplegic, 1
Synonyms:: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia
Identifiers:: MONDO: MONDO:0020756; MedGen: C1832884; Orphanet: 569; OMIM: 141500

Name:: Developmental and epileptic encephalopathy, 52 (DEE52)
Synonyms:: Epileptic encephalopathy, early infantile, 52
Identifiers:: MONDO: MONDO:0033361; MedGen: C4479236; OMIM: 617350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002506535	Wendy Chung Laboratory, Columbia University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 20, 2022)	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

SCV002506535

Wendy Chung Laboratory, Columbia University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 20, 2022)

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 Wendy Chung Laboratory, Columbia University Medical Center, SCV002506535.1

#	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: Dec 24, 2023

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