NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met) AND Cerebellar atrophy with seizures and variable developmental delay

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 5, 2022
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:: RCV003143522.3

Allele description [Variation Report for NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met)]

NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met)

Genes:

LOC127898564:CYB561D2-LOC101928965 [Gene]
CACNA2D2:calcium voltage-gated channel auxiliary subunit alpha2delta 2 [Gene - OMIM - HGNC]
LOC101928965:uncharacterized LOC101928965 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met)

HGVS:

NC_000003.12:g.50365655G>C
NG_034070.1:g.143590C>G
NG_099482.1:g.606G>C
NM_001005505.3:c.2949C>G
NM_001174051.1:c.2970C>G
NM_001174051.3:c.2970C>G
NM_001291101.1:c.2742C>G
NM_001410768.1:c.2952C>G
NM_006030.4:c.2949C>GMANE SELECT
NP_001005505.1:p.Ile983Met
NP_001167522.1:p.Ile990Met
NP_001278030.1:p.Ile914Met
NP_001397697.1:p.Ile984Met
NP_006021.2:p.Ile983Met
NC_000003.11:g.50403086G>C
NM_006030.4:c.2949C>G
NR_111913.2:n.293G>C
NR_111914.2:n.293G>C
NR_183061.1:n.293G>C
NR_183062.1:n.293G>C
NR_183063.1:n.293G>C
NR_183064.1:n.293G>C
NR_183065.1:n.293G>C

Protein change:

I914M

Molecular consequence:

NM_001005505.3:c.2949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001174051.3:c.2970C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001291101.1:c.2742C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001410768.1:c.2952C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006030.4:c.2949C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_111913.2:n.293G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_111914.2:n.293G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cerebellar atrophy with seizures and variable developmental delay
Identifiers:: MONDO: MONDO:0032788; MedGen: C5193132; OMIM: 618501

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003828860	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 5, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003828860

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 5, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV003828860.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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