NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) AND History of neurodevelopmental disorder

Clinical significance:Likely benign (Last evaluated: Feb 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000720697.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)]

NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)

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.3421G>A (p.Glu1141Lys)
HGVS:
  • NC_000019.10:g.13286635C>T
  • NG_011569.1:g.224826G>A
  • NM_000068.4:c.3433G>A
  • NM_001127221.1:c.3424G>A
  • NM_001127222.2:c.3421G>AMANE SELECT
  • NM_001174080.2:c.3424G>A
  • NM_023035.3:c.3433G>A
  • NP_000059.3:p.Glu1145Lys
  • NP_001120693.1:p.Glu1142Lys
  • NP_001120694.1:p.Glu1141Lys
  • NP_001167551.1:p.Glu1142Lys
  • NP_075461.2:p.Glu1145Lys
  • LRG_7t1:c.3424G>A
  • LRG_7:g.224826G>A
  • LRG_7p1:p.Glu1142Lys
  • NC_000019.9:g.13397449C>T
  • NM_000068.2:c.3424G>A
Protein change:
E1141K
Links:
dbSNP: rs780535727
NCBI 1000 Genomes Browser:
rs780535727
Molecular consequence:
  • NM_000068.4:c.3433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.1:c.3424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.3421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.3424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.3433G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000851577Ambry Geneticscriteria provided, single submitter
Likely benign
(Feb 13, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000851577.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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