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NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) AND Abnormality of the nervous system

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
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:
RCV001814128.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)]

NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)

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.2134G>A (p.Ala712Thr)
Other names:
p.A713T; p.Ala712Thr
HGVS:
  • NC_000019.10:g.13303584C>T
  • NG_011569.1:g.207877G>A
  • NM_000068.4:c.2137G>A
  • NM_001127221.2:c.2137G>A
  • NM_001127222.2:c.2134G>AMANE SELECT
  • NM_001174080.2:c.2137G>A
  • NM_023035.3:c.2137G>A
  • NP_000059.3:p.Ala713Thr
  • NP_001120693.1:p.Ala713Thr
  • NP_001120693.1:p.Ala713Thr
  • NP_001120694.1:p.Ala712Thr
  • NP_001167551.1:p.Ala713Thr
  • NP_075461.2:p.Ala713Thr
  • LRG_7t1:c.2137G>A
  • LRG_7:g.207877G>A
  • LRG_7p1:p.Ala713Thr
  • NC_000019.9:g.13414398C>T
  • NM_001127221.1:c.2137G>A
  • NM_001127222.2:c.2134G>A
  • NM_023035.2:c.2137G>A
Protein change:
A712T; ALA713THR
Links:
OMIM: 601011.0036
Molecular consequence:
  • NM_000068.4:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormality of the nervous system
Synonyms:
Congenital nervous system disorder
Identifiers:
MONDO: MONDO:0002320; MedGen: C0497552; Human Phenotype Ontology: HP:0000707

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755237Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755237.1

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

Last Updated: Sep 29, 2024