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NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 17, 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:
RCV000263291.1

Allele description

NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr)

Gene:
CACNA1G:calcium voltage-gated channel subunit alpha1 G [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr)
HGVS:
  • NC_000017.11:g.50592063G>A
  • NG_032024.1:g.35996G>A
  • NM_001256324.2:c.2881G>A
  • NM_001256325.2:c.2881G>A
  • NM_001256326.2:c.2881G>A
  • NM_001256327.2:c.2881G>A
  • NM_001256328.2:c.2881G>A
  • NM_001256329.2:c.2881G>A
  • NM_001256330.2:c.2881G>A
  • NM_001256331.2:c.2881G>A
  • NM_001256332.2:c.2881G>A
  • NM_001256333.2:c.2881G>A
  • NM_001256334.2:c.2881G>A
  • NM_001256359.2:c.2881G>A
  • NM_001256360.2:c.2881G>A
  • NM_001256361.2:c.2881G>A
  • NM_018896.5:c.2881G>AMANE SELECT
  • NM_198376.3:c.2881G>A
  • NM_198377.3:c.2881G>A
  • NM_198378.3:c.2881G>A
  • NM_198379.3:c.2881G>A
  • NM_198380.3:c.2881G>A
  • NM_198382.2:c.2881G>A
  • NM_198383.3:c.2881G>A
  • NM_198384.3:c.2881G>A
  • NM_198385.3:c.2881G>A
  • NM_198386.3:c.2881G>A
  • NM_198387.3:c.2881G>A
  • NM_198388.3:c.2881G>A
  • NM_198396.2:c.2881G>A
  • NP_001243253.1:p.Ala961Thr
  • NP_001243254.1:p.Ala961Thr
  • NP_001243255.1:p.Ala961Thr
  • NP_001243256.1:p.Ala961Thr
  • NP_001243257.1:p.Ala961Thr
  • NP_001243258.1:p.Ala961Thr
  • NP_001243259.1:p.Ala961Thr
  • NP_001243260.1:p.Ala961Thr
  • NP_001243261.1:p.Ala961Thr
  • NP_001243262.1:p.Ala961Thr
  • NP_001243263.1:p.Ala961Thr
  • NP_001243288.1:p.Ala961Thr
  • NP_001243289.1:p.Ala961Thr
  • NP_001243290.1:p.Ala961Thr
  • NP_061496.2:p.Ala961Thr
  • NP_938190.1:p.Ala961Thr
  • NP_938191.2:p.Ala961Thr
  • NP_938192.1:p.Ala961Thr
  • NP_938193.1:p.Ala961Thr
  • NP_938194.1:p.Ala961Thr
  • NP_938196.1:p.Ala961Thr
  • NP_938197.1:p.Ala961Thr
  • NP_938198.1:p.Ala961Thr
  • NP_938199.1:p.Ala961Thr
  • NP_938200.1:p.Ala961Thr
  • NP_938201.1:p.Ala961Thr
  • NP_938202.1:p.Ala961Thr
  • NP_938406.1:p.Ala961Thr
  • NC_000017.10:g.48669424G>A
  • NM_018896.3:c.2881G>A
  • NM_018896.4:c.2881G>A
  • NR_046054.2:n.3626G>A
  • NR_046055.2:n.3626G>A
  • NR_046056.2:n.3626G>A
  • NR_046057.2:n.3626G>A
  • NR_046058.2:n.3626G>A
Protein change:
A961T; ALA961THR
Links:
OMIM: 604065.0002; dbSNP: rs886041505
NCBI 1000 Genomes Browser:
rs886041505
Molecular consequence:
  • NM_001256324.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256325.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256326.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256327.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256328.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256329.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256330.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256331.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256332.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256333.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256334.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256359.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256360.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256361.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018896.5:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198376.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198377.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198378.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198379.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198380.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198382.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198383.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198384.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198385.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198386.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198387.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198388.3:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198396.2:c.2881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046054.2:n.3626G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046055.2:n.3626G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046056.2:n.3626G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046057.2:n.3626G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046058.2:n.3626G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330170GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 17, 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, SCV000330170.6

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

Description

The A961T variant in the CACNA1G gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, GeneDx has observed this de novo variant in individuals referred for XomeDx analysis with clinical findings of developmental delay, hypotonia, seizures, and digital anomalies including syndactyly, polydactyly, or broad thumbs and halluces. The A961T variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A961T 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. 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. Therefore, we interpret A961T as a pathogenic variant.

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

Last Updated: Apr 13, 2021