NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Aug 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001092223.3

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)]

NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)

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.1499C>T (p.Thr500Met)
HGVS:
  • NC_000019.10:g.13317168G>A
  • NG_011569.1:g.194293C>T
  • NM_000068.4:c.1502C>T
  • NM_001127221.1:c.1502C>T
  • NM_001127221.2:c.1502C>T
  • NM_001127222.2:c.1499C>TMANE SELECT
  • NM_001174080.2:c.1502C>T
  • NM_023035.3:c.1502C>T
  • NP_000059.3:p.Thr501Met
  • NP_001120693.1:p.Thr501Met
  • NP_001120693.1:p.Thr501Met
  • NP_001120694.1:p.Thr500Met
  • NP_001167551.1:p.Thr501Met
  • NP_075461.2:p.Thr501Met
  • LRG_7t1:c.1502C>T
  • LRG_7:g.194293C>T
  • LRG_7p1:p.Thr501Met
  • NC_000019.9:g.13427982G>A
  • NM_000068.2:c.1502C>T
Protein change:
T500M
Links:
UniProtKB/Swiss-Prot: VAR_063687; dbSNP: rs121908240
NCBI 1000 Genomes Browser:
rs121908240
Molecular consequence:
  • NM_000068.4:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.1:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.1499C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001248630CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Mar 1, 2018)
germlineclinical testing

Citation Link,

SCV001475630Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Aug 13, 2020)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C.

J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2.

PubMed [citation]
PMID:
20129625

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg D, Valverde MÁ, Fernández-Fernández JM, Macaya A, Cormand B.

Mol Genet Genomic Med. 2013 Nov;1(4):206-22. doi: 10.1002/mgg3.24. Epub 2013 Jul 2.

PubMed [citation]
PMID:
24498617
PMCID:
PMC3865589
See all PubMed Citations (4)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248630.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Athena Diagnostics Inc, SCV001475630.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

Support Center