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NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 23, 2019
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:
RCV000523033.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle)]

NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
Deletion
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle)
HGVS:
  • NC_000002.12:g.165991418_165991420del
  • NG_011906.1:g.87220_87222del
  • NM_001165963.4:c.5855_5857delMANE SELECT
  • NM_001165964.3:c.5771_5773del
  • NM_001202435.3:c.5855_5857del
  • NM_001353948.2:c.5855_5857del
  • NM_001353949.2:c.5822_5824del
  • NM_001353950.2:c.5822_5824del
  • NM_001353951.2:c.5822_5824del
  • NM_001353952.2:c.5822_5824del
  • NM_001353954.2:c.5819_5821del
  • NM_001353955.2:c.5819_5821del
  • NM_001353957.2:c.5771_5773del
  • NM_001353958.2:c.5771_5773del
  • NM_001353960.2:c.5768_5770del
  • NM_001353961.2:c.3413_3415del
  • NM_006920.6:c.5822_5824del
  • NP_001159435.1:p.Asn1952_Leu1953delinsIle
  • NP_001159436.1:p.Asn1924_Leu1925delinsIle
  • NP_001189364.1:p.Asn1952_Leu1953delinsIle
  • NP_001340877.1:p.Asn1952_Leu1953delinsIle
  • NP_001340878.1:p.Asn1941_Leu1942delinsIle
  • NP_001340879.1:p.Asn1941_Leu1942delinsIle
  • NP_001340880.1:p.Asn1941_Leu1942delinsIle
  • NP_001340881.1:p.Asn1941_Leu1942delinsIle
  • NP_001340883.1:p.Asn1940_Leu1941delinsIle
  • NP_001340884.1:p.Asn1940_Leu1941delinsIle
  • NP_001340886.1:p.Asn1924_Leu1925delinsIle
  • NP_001340887.1:p.Asn1924_Leu1925delinsIle
  • NP_001340889.1:p.Asn1923_Leu1924delinsIle
  • NP_001340890.1:p.Asn1138_Leu1139delinsIle
  • NP_008851.3:p.Asn1941_Leu1942delinsIle
  • LRG_8:g.87220_87222del
  • NC_000002.11:g.166847928_166847930del
  • NM_001165963.1:c.5855_5857del
  • NM_001165963.1:c.5855_5857delATC
  • NR_148667.2:n.6272_6274del
Links:
dbSNP: rs1553519782
NCBI 1000 Genomes Browser:
rs1553519782
Molecular consequence:
  • NM_001165963.4:c.5855_5857del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001165964.3:c.5771_5773del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001202435.3:c.5855_5857del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353948.2:c.5855_5857del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353949.2:c.5822_5824del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353950.2:c.5822_5824del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353951.2:c.5822_5824del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353952.2:c.5822_5824del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353954.2:c.5819_5821del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353955.2:c.5819_5821del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353957.2:c.5771_5773del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353958.2:c.5771_5773del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353960.2:c.5768_5770del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001353961.2:c.3413_3415del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_006920.6:c.5822_5824del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NR_148667.2:n.6272_6274del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000619948GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jul 23, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000619948.4

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

Description

Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 2 amino acids and insertion of 1 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Feb 20, 2024