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NM_001040142.2(SCN2A):c.-51-1737_-51-1735del AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 24, 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:
RCV002280473.2

Allele description [Variation Report for NM_001040142.2(SCN2A):c.-51-1737_-51-1735del]

NM_001040142.2(SCN2A):c.-51-1737_-51-1735del

Genes:
LOC120977013:Sharpr-MPRA regulatory region 13511 [Gene]
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.2(SCN2A):c.-51-1737_-51-1735del
HGVS:
  • NC_000002.12:g.165294036_165294038del
  • NG_008143.1:g.59635_59637del
  • NG_074009.1:g.398_400del
  • NM_001040142.2:c.-51-1737_-51-1735delMANE SELECT
  • NM_001040143.2:c.-51-1737_-51-1735del
  • NM_001371246.1:c.-51-1737_-51-1735del
  • NM_001371247.1:c.-51-1737_-51-1735del
  • NC_000002.11:g.166150546_166150548del
Molecular consequence:
  • NM_001040142.2:c.-51-1737_-51-1735del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040143.2:c.-51-1737_-51-1735del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371246.1:c.-51-1737_-51-1735del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371247.1:c.-51-1737_-51-1735del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002568603GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Feb 24, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002568603.2

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

Description

See Variant Classification Assertion Criteria.

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

Last Updated: Mar 4, 2023