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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000619948	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 23, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000619948

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 23, 2019)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000619948.4

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

#	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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine