NM_000722.4(CACNA2D1):c.1956-4del AND Cardiovascular phenotype

Clinical significance:Benign (Last evaluated: Mar 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000617848.1

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]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000736396Ambry Geneticscriteria provided, single submitter
Benign
(Mar 8, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000736396.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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