NM_000722.4(CACNA2D1):c.1956-4del AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Feb 23, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000710354.13

Allele description [Variation Report for NM_000722.4(CACNA2D1):c.1956-4del]

NM_000722.4(CACNA2D1):c.1956-4del

Gene:

CACNA2D1:calcium voltage-gated channel auxiliary subunit alpha2delta 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q21.11

Genomic location:

Preferred name:

NM_000722.4(CACNA2D1):c.1956-4del

HGVS:

NC_000007.14:g.81974564del
NG_009358.2:g.474160del
NM_000722.4:c.1956-4delMANE SELECT
NM_001366867.1:c.1992-4del
LRG_437t1:c.1956-4del
LRG_437:g.474160del
NC_000007.13:g.81603872del
NC_000007.13:g.81603880del
NM_000722.2:c.1956-4del
NM_000722.2:c.1956-4delT

Links:

dbSNP: rs3083235

NCBI 1000 Genomes Browser:

rs3083235

Molecular consequence:

NM_000722.4:c.1956-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001366867.1:c.1992-4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000714606	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Feb 23, 2021)	germline	clinical testing	Citation Link,
SCV000840557	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (May 14, 2018)	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

SCV000714606

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Feb 23, 2021)

germline

clinical testing

Citation Link,

SCV000840557

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(May 14, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000714606.3

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

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

From Athena Diagnostics Inc, SCV000840557.1

#	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: Apr 20, 2024

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