U.S. flag

An official website of the United States government

NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 15, 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:
RCV001814259.4

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)]

NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)

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.1647del (p.Phe550fs)
HGVS:
  • NC_000019.10:g.13312691del
  • NG_011569.1:g.198771del
  • NM_000068.4:c.1650del
  • NM_001127221.2:c.1650del
  • NM_001127222.2:c.1647delMANE SELECT
  • NM_001174080.2:c.1650del
  • NM_023035.3:c.1650del
  • NP_000059.3:p.Phe551fs
  • NP_001120693.1:p.Phe551fs
  • NP_001120693.1:p.Phe551fs
  • NP_001120694.1:p.Phe550fs
  • NP_001167551.1:p.Phe551fs
  • NP_075461.2:p.Phe551fs
  • LRG_7t1:c.1650del
  • LRG_7:g.198771del
  • LRG_7p1:p.Phe551fs
  • NC_000019.9:g.13423504del
  • NC_000019.9:g.13423505del
  • NM_001127221.1:c.1650del
Protein change:
F550fs
Links:
dbSNP: rs2058057299
NCBI 1000 Genomes Browser:
rs2058057299
Molecular consequence:
  • NM_000068.4:c.1650del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127221.2:c.1650del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127222.2:c.1647del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001174080.2:c.1650del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_023035.3:c.1650del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Episodic ataxia type 2 (EA2)
Synonyms:
CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CEREBELLOPATHY, HEREDITARY PAROXYSMAL; Episodic ataxia with nystagmus; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007163; MedGen: C1720416; Orphanet: 97; OMIM: 108500
Name:
Spinocerebellar ataxia type 6 (SCA6)
Identifiers:
MONDO: MONDO:0008457; MedGen: C0752124; Orphanet: 98758; OMIM: 183086
Name:
Migraine, familial hemiplegic, 1
Synonyms:
MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA
Identifiers:
MONDO: MONDO:0020756; MedGen: C1832884; Orphanet: 569; OMIM: 141500
Name:
Developmental and epileptic encephalopathy, 42 (DEE42)
Synonyms:
Epileptic encephalopathy, early infantile, 42
Identifiers:
MONDO: MONDO:0014917; MedGen: C4310716; OMIM: 617106

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002061573Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 15, 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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV002061573.2

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

Description

PVS1, PM2

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

Last Updated: Jan 13, 2025