NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) AND Migraine, familial hemiplegic, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 1, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000009039.8

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)]

NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)

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.4034G>A (p.Arg1345Gln)

Other names:

R1347Q

HGVS:

NC_000019.10:g.13262789C>T
NG_011569.1:g.248672G>A
NM_000068.4:c.4046G>A
NM_001127221.2:c.4037G>A
NM_001127222.2:c.4034G>AMANE SELECT
NM_001174080.2:c.4037G>A
NM_023035.3:c.4046G>A
NP_000059.3:p.Arg1349Gln
NP_001120693.1:p.Arg1346Gln
NP_001120693.1:p.Arg1346Gln
NP_001120694.1:p.Arg1345Gln
NP_001167551.1:p.Arg1346Gln
NP_075461.2:p.Arg1349Gln
LRG_7t1:c.4037G>A
LRG_7:g.248672G>A
LRG_7p1:p.Arg1346Gln
NC_000019.9:g.13373603C>T
NM_000068.2:c.4037G>A
NM_001127221.1:c.4037G>A

Protein change:

R1345Q; ARG1347GLN

Links:

UniProtKB/Swiss-Prot: VAR_043830; OMIM: 601011.0027; dbSNP: rs121908230

NCBI 1000 Genomes Browser:

rs121908230

Molecular consequence:

NM_000068.4:c.4046G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127221.2:c.4037G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127222.2:c.4034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001174080.2:c.4037G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_023035.3:c.4046G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029256	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000090852	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029256

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2008)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000090852

UniProtKB/Swiss-Prot

no classification provided

not provided

PubMed (1)
[See all records that cite this PMID]

Description

a Portuguese family with both slowly progressive cerebellar ataxia and hemiplegic migraine: SCV000090852

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

Stam AH, Vanmolkot KR, Kremer HP, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM, Terwindt GM.

Clin Genet. 2008 Nov;74(5):481-5. doi: 10.1111/j.1399-0004.2008.00996.x. Epub 2008 Apr 8.

PubMed [citation]

PMID:: 18400034

A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.

Alonso I, Barros J, Tuna A, Seixas A, Coutinho P, Sequeiros J, Silveira I.

Clin Genet. 2004 Jan;65(1):70-2. No abstract available.

PubMed [citation]

PMID:: 15032980

Details of each submission

From OMIM, SCV000029256.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of 4 unrelated families with familial hemiplegic migraine-1 (FHM1; 141500), Stam et al. (2008) identified a heterozygous 4040G-A transition in exon 25 of the CACNA1A gene, resulting in an arg1347-to-gln (R1347Q) substitution in the S4 segment of protein domain III. Haplotype analysis excluded a founder effect. In 3 of the 4 families, age at onset was before age 3 years. Two patients in 1 family also had focal seizures. Stam et al. (2008) stated that the R1347Q mutation was the third most common CACNA1A mutation associated with FHM1, after T666M (601011.0002) and R583Q (601011.0018).

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

From UniProtKB/Swiss-Prot, SCV000090852.1

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

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

Last Updated: Oct 26, 2024

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