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NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) AND CACNA1A-associated disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2023
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:
RCV003314034.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)]

NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)

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.4031T>C (p.Leu1344Pro)
HGVS:
  • NC_000019.10:g.13262792A>G
  • NG_011569.1:g.248669T>C
  • NM_000068.4:c.4043T>C
  • NM_001127221.1:c.4034T>C
  • NM_001127221.2:c.4034T>C
  • NM_001127222.2:c.4031T>CMANE SELECT
  • NM_001174080.2:c.4034T>C
  • NM_023035.3:c.4043T>C
  • NP_000059.3:p.Leu1348Pro
  • NP_001120693.1:p.Leu1345Pro
  • NP_001120694.1:p.Leu1344Pro
  • NP_001167551.1:p.Leu1345Pro
  • NP_075461.2:p.Leu1348Pro
  • LRG_7t1:c.4034T>C
  • LRG_7:g.248669T>C
  • NC_000019.9:g.13373606A>G
Protein change:
L1344P
Links:
dbSNP: rs2144773045
NCBI 1000 Genomes Browser:
rs2144773045
Molecular consequence:
  • NM_000068.4:c.4043T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.4043T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CACNA1A-associated disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004013412Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 20, 2023) 		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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV004013412.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PS1, PS4_Supporting, PM1, PM2, PP2, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024