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NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 2018
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:
RCV000489364.1

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)]

NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)

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.5880G>A (p.Met1960Ile)
HGVS:
  • NC_000019.10:g.13214293C>T
  • NG_011569.1:g.297168G>A
  • NM_000068.4:c.5898G>A
  • NM_001127221.2:c.5883G>A
  • NM_001127222.2:c.5880G>AMANE SELECT
  • NM_001174080.2:c.5889G>A
  • NM_023035.3:c.5898G>A
  • NP_000059.3:p.Met1966Ile
  • NP_001120693.1:p.Met1961Ile
  • NP_001120693.1:p.Met1961Ile
  • NP_001120694.1:p.Met1960Ile
  • NP_001167551.1:p.Met1963Ile
  • NP_075461.2:p.Met1966Ile
  • LRG_7t1:c.5883G>A
  • LRG_7:g.297168G>A
  • LRG_7p1:p.Met1961Ile
  • NC_000019.9:g.13325107C>T
  • NM_001127221.1:c.5883G>A
Protein change:
M1960I
Links:
dbSNP: rs1085307557
NCBI 1000 Genomes Browser:
rs1085307557
Molecular consequence:
  • NM_000068.4:c.5898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.5883G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.5880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.5889G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.5898G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576718GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 1, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000576718.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The M1961I variant in the CACNA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M1961I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M1961I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret M1961I as a variant of uncertain significance.

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

Last Updated: Aug 5, 2023