NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Apr 16, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000152896.8

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)]

NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)

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.4632C>T (p.Thr1544=)
HGVS:
  • NC_000019.10:g.13255218G>A
  • NG_011569.1:g.256243C>T
  • NM_000068.4:c.4644C>T
  • NM_001127221.1:c.4635C>T
  • NM_001127221.2:c.4635C>T
  • NM_001127222.2:c.4632C>TMANE SELECT
  • NM_001174080.2:c.4635C>T
  • NM_023035.3:c.4644C>T
  • NP_000059.3:p.Thr1548=
  • NP_001120693.1:p.Thr1545=
  • NP_001120693.1:p.Thr1545=
  • NP_001120694.1:p.Thr1544=
  • NP_001167551.1:p.Thr1545=
  • NP_075461.2:p.Thr1548=
  • LRG_7t1:c.4635C>T
  • LRG_7:g.256243C>T
  • LRG_7p1:p.Thr1545=
  • NC_000019.9:g.13366032G>A
  • NM_000068.2:c.4635C>T
  • NP_001120693.1:p.(=)
  • p.Thr1545Thr
Links:
dbSNP: rs150378053
NCBI 1000 Genomes Browser:
rs150378053
Molecular consequence:
  • NM_000068.4:c.4644C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127221.1:c.4635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127221.2:c.4635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127222.2:c.4632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001174080.2:c.4635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_023035.3:c.4644C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202320EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Sep 28, 2015)
germlineclinical testing

Citation Link,

SCV000612547Athena Diagnostics Inccriteria provided, single submitter
Benign
(Apr 16, 2021)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

Eunson LH, Graves TD, Hanna MG.

Neurology. 2005 Jul 26;65(2):308-10.

PubMed [citation]
PMID:
16043807

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000202320.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Athena Diagnostics Inc, SCV000612547.2

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

Last Updated: Nov 6, 2021

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