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NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2021
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:
RCV001770357.2

Allele description [Variation Report for NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)]

NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)

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.3331G>A (p.Val1111Ile)
HGVS:
  • NC_000012.12:g.2607105G>A
  • NG_008801.2:g.641320G>A
  • NM_000719.7:c.3331G>AMANE SELECT
  • NM_001129827.2:c.3391G>A
  • NM_001129829.2:c.3331G>A
  • NM_001129830.3:c.3331G>A
  • NM_001129831.2:c.3331G>A
  • NM_001129832.2:c.3391G>A
  • NM_001129833.2:c.3331G>A
  • NM_001129834.2:c.3331G>A
  • NM_001129835.2:c.3331G>A
  • NM_001129836.2:c.3331G>A
  • NM_001129837.2:c.3331G>A
  • NM_001129838.2:c.3331G>A
  • NM_001129839.2:c.3331G>A
  • NM_001129840.2:c.3331G>A
  • NM_001129841.2:c.3331G>A
  • NM_001129842.2:c.3331G>A
  • NM_001129843.2:c.3331G>A
  • NM_001129844.2:c.3322G>A
  • NM_001129846.2:c.3331G>A
  • NM_001167623.2:c.3331G>A
  • NM_001167624.3:c.3331G>A
  • NM_001167625.2:c.3331G>A
  • NM_199460.4:c.3391G>A
  • NP_000710.5:p.Val1111Ile
  • NP_001123299.1:p.Val1131Ile
  • NP_001123301.1:p.Val1111Ile
  • NP_001123302.2:p.Val1111Ile
  • NP_001123303.1:p.Val1111Ile
  • NP_001123304.1:p.Val1131Ile
  • NP_001123305.1:p.Val1111Ile
  • NP_001123306.1:p.Val1111Ile
  • NP_001123307.1:p.Val1111Ile
  • NP_001123308.1:p.Val1111Ile
  • NP_001123309.1:p.Val1111Ile
  • NP_001123310.1:p.Val1111Ile
  • NP_001123311.1:p.Val1111Ile
  • NP_001123312.1:p.Val1111Ile
  • NP_001123313.1:p.Val1111Ile
  • NP_001123314.1:p.Val1111Ile
  • NP_001123315.1:p.Val1111Ile
  • NP_001123316.1:p.Val1108Ile
  • NP_001123318.1:p.Val1111Ile
  • NP_001161095.1:p.Val1111Ile
  • NP_001161096.2:p.Val1111Ile
  • NP_001161097.1:p.Val1111Ile
  • NP_955630.3:p.Val1131Ile
  • LRG_334t1:c.3331G>A
  • LRG_334:g.641320G>A
  • NC_000012.11:g.2716271G>A
  • NM_000719.6:c.3331G>A
Protein change:
V1108I
Links:
dbSNP: rs766023530
NCBI 1000 Genomes Browser:
rs766023530
Molecular consequence:
  • NM_000719.7:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129827.2:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129829.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129830.3:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129831.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129832.2:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129833.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129834.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129835.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129836.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129837.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129838.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129839.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129840.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129841.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129842.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129843.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129844.2:c.3322G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129846.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167623.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167624.3:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167625.2:c.3331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199460.4:c.3391G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002002575GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 16, 2021) 		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, SCV002002575.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID#411719; Landrum et al., 2016)

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

Last Updated: May 7, 2024