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NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV000735366.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)]

NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)

Gene:
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
HGVS:
  • NC_000019.10:g.13207565_13207570del
  • NG_011569.1:g.303893_303898del
  • NM_000068.4:c.*478_*483del
  • NM_001127221.1:c.*478_*483delCAGCGG
  • NM_001127221.2:c.*478_*483del
  • NM_001127222.2:c.7266_7271delMANE SELECT
  • NM_001174080.2:c.*478_*483del
  • NM_023035.3:c.7284_7289del
  • NP_001120694.1:p.Ser2423_Gly2424del
  • NP_075461.2:p.Ser2429_Gly2430del
  • LRG_7t1:c.*478_*483del
  • LRG_7:g.303893_303898del
  • NC_000019.9:g.13318377_13318382delCCGCTG
  • NC_000019.9:g.13318379_13318384del
  • NM_001127222.1:c.7266_7271del6
  • NM_001127222.2:c.7266_7271del
  • NM_023035.2:c.7284_7289delCAGCGG
Links:
dbSNP: rs775428832
NCBI 1000 Genomes Browser:
rs775428832
Molecular consequence:
  • NM_000068.4:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001127221.2:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001174080.2:c.*478_*483del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001127222.2:c.7266_7271del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_023035.3:c.7284_7289del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Autistic behavior
Identifiers:
MedGen: C0856975; Human Phenotype Ontology: HP:0000729
Name:
Specific learning disability
Identifiers:
MONDO: MONDO:0016225; MedGen: C4025790; Human Phenotype Ontology: HP:0001328
Name:
Abnormal basal ganglia morphology
Synonyms:
Abnormality of the basal ganglia
Identifiers:
MONDO: MONDO:0003996; MedGen: C4520981; Human Phenotype Ontology: HP:0002134
Name:
Abnormal globus pallidus morphology
Synonyms:
Abnormality of the globus pallidus
Identifiers:
MedGen: C4025706; Human Phenotype Ontology: HP:0002453
Name:
Bilateral basal ganglia lesions
Identifiers:
MedGen: C4024932; Human Phenotype Ontology: HP:0007146
Name:
Abnormal substantia nigra morphology
Identifiers:
MedGen: C4022403; Human Phenotype Ontology: HP:0045007
Name:
Attention deficit hyperactivity disorder (ADHD)
Identifiers:
MONDO: MONDO:0007743; MedGen: C1263846; Human Phenotype Ontology: HP:0007018

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854520Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical 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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Oct 8, 2024