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NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup AND not provided

Germline classification:
Uncertain significance (1 submission)
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:
RCV004694487.1

Allele description [Variation Report for NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup]

NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup

Gene:
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup
HGVS:
  • NC_000002.12:g.165294052_165294053dup
  • NG_008143.1:g.59651_59652dup
  • NG_074009.1:g.414_415dup
  • NM_001040142.2:c.-51-1721_-51-1720dupMANE SELECT
  • NM_001040143.2:c.-51-1721_-51-1720dup
  • NM_001371246.1:c.-51-1721_-51-1720dup
  • NM_001371247.1:c.-51-1721_-51-1720dup
  • NM_021007.2:c.-135_-134dup
  • NC_000002.11:g.166150562_166150563dup
  • NM_021007.2:c.-135_-134dupTT
Links:
dbSNP: rs1553563950
NCBI 1000 Genomes Browser:
rs1553563950
Molecular consequence:
  • NM_001040142.2:c.-51-1721_-51-1720dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040143.2:c.-51-1721_-51-1720dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371246.1:c.-51-1721_-51-1720dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371247.1:c.-51-1721_-51-1720dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005187979Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided

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 Breakthrough Genomics, Breakthrough Genomics, SCV005187979.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024