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NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2017
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:
RCV000482795.1

Allele description [Variation Report for NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr)]

NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr)

Gene:
CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.33
Genomic location:
Preferred name:
NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr)
HGVS:
  • NC_000012.12:g.2115385G>A
  • NG_008801.2:g.149600G>A
  • NM_000719.7:c.211G>AMANE SELECT
  • NM_001129827.2:c.211G>A
  • NM_001129829.2:c.211G>A
  • NM_001129830.3:c.211G>A
  • NM_001129831.2:c.211G>A
  • NM_001129832.2:c.211G>A
  • NM_001129833.2:c.211G>A
  • NM_001129834.2:c.211G>A
  • NM_001129835.2:c.211G>A
  • NM_001129836.2:c.211G>A
  • NM_001129837.2:c.211G>A
  • NM_001129838.2:c.211G>A
  • NM_001129839.2:c.211G>A
  • NM_001129840.2:c.211G>A
  • NM_001129841.2:c.211G>A
  • NM_001129842.2:c.211G>A
  • NM_001129843.2:c.211G>A
  • NM_001129844.2:c.211G>A
  • NM_001129846.2:c.211G>A
  • NM_001167623.2:c.211G>A
  • NM_001167624.3:c.211G>A
  • NM_001167625.2:c.211G>A
  • NM_199460.4:c.211G>A
  • NP_000710.5:p.Ala71Thr
  • NP_001123299.1:p.Ala71Thr
  • NP_001123301.1:p.Ala71Thr
  • NP_001123302.2:p.Ala71Thr
  • NP_001123303.1:p.Ala71Thr
  • NP_001123304.1:p.Ala71Thr
  • NP_001123305.1:p.Ala71Thr
  • NP_001123306.1:p.Ala71Thr
  • NP_001123307.1:p.Ala71Thr
  • NP_001123308.1:p.Ala71Thr
  • NP_001123309.1:p.Ala71Thr
  • NP_001123310.1:p.Ala71Thr
  • NP_001123311.1:p.Ala71Thr
  • NP_001123312.1:p.Ala71Thr
  • NP_001123313.1:p.Ala71Thr
  • NP_001123314.1:p.Ala71Thr
  • NP_001123315.1:p.Ala71Thr
  • NP_001123316.1:p.Ala71Thr
  • NP_001123318.1:p.Ala71Thr
  • NP_001161095.1:p.Ala71Thr
  • NP_001161096.2:p.Ala71Thr
  • NP_001161097.1:p.Ala71Thr
  • NP_955630.3:p.Ala71Thr
  • LRG_334t1:c.211G>A
  • LRG_334:g.149600G>A
  • NC_000012.11:g.2224551G>A
  • NM_000719.6:c.211G>A
Protein change:
A71T
Links:
dbSNP: rs1064796234
NCBI 1000 Genomes Browser:
rs1064796234
Molecular consequence:
  • NM_000719.7:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129827.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129829.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129830.3:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129831.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129832.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129833.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129834.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129835.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129836.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129837.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129838.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129839.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129840.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129841.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129842.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129843.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129844.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129846.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167623.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167624.3:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167625.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199460.4:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000572756GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 19, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000572756.4

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

Description

A variant of uncertain significance has been identified in the CACNA1C gene. The A71T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A71T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species. Furthermore, 2/3 in silico algorithms predict this variant likely does not alter the protein structure/function.

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

Last Updated: Mar 26, 2023