U.S. flag

An official website of the United States government

NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 16, 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:
RCV002407156.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)]

NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)

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.848A>G (p.Asn283Ser)
HGVS:
  • NC_000019.10:g.13359736T>C
  • NG_011569.1:g.151725A>G
  • NM_000068.4:c.848A>G
  • NM_001127221.2:c.848A>G
  • NM_001127222.2:c.848A>GMANE SELECT
  • NM_001174080.2:c.848A>G
  • NM_023035.3:c.848A>G
  • NP_000059.3:p.Asn283Ser
  • NP_001120693.1:p.Asn283Ser
  • NP_001120694.1:p.Asn283Ser
  • NP_001167551.1:p.Asn283Ser
  • NP_075461.2:p.Asn283Ser
  • LRG_7t1:c.848A>G
  • LRG_7:g.151725A>G
  • NC_000019.9:g.13470550T>C
  • NM_001127221.1:c.848A>G
Protein change:
N283S
Links:
dbSNP: rs1212952550
NCBI 1000 Genomes Browser:
rs1212952550
Molecular consequence:
  • NM_000068.4:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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
SCV002675364Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 16, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002675364.2

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

Description

The p.N283S variant (also known as c.848A>G), located in coding exon 6 of the CACNA1A gene, results from an A to G substitution at nucleotide position 848. The asparagine at codon 283 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024