NM_001037.5(SCN1B):c.448+205del AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 15, 2024
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:: RCV001751391.3

Allele description [Variation Report for NM_001037.5(SCN1B):c.448+205del]

NM_001037.5(SCN1B):c.448+205del

Gene:

SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.11

Genomic location:

Preferred name:

NM_001037.5(SCN1B):c.448+205del

HGVS:

NC_000019.10:g.35033944del
NG_013359.1:g.8257del
NM_001037.5:c.448+205delMANE SELECT
NM_001321605.2:c.349+205del
NM_199037.5:c.653del
NP_950238.1:p.Ser218fs
LRG_420t1:c.448+205del
LRG_420:g.8257del
NC_000019.9:g.35524848del
NM_199037.3:c.653del

Protein change:

S218fs

Links:

dbSNP: rs764848712

NCBI 1000 Genomes Browser:

rs764848712

Molecular consequence:

NM_199037.5:c.653del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001037.5:c.448+205del - intron variant - [Sequence Ontology: SO:0001627]
NM_001321605.2:c.349+205del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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lamin tail domain-containing protein 1 isoform b [Mus musculus]
lamin tail domain-containing protein 1 isoform b [Mus musculus]
gi|2453130690|ref|NP_001404738.1|

Protein
RecName: Full=Zinc finger protein 682
RecName: Full=Zinc finger protein 682
gi|74754434|sp|O95780.1|ZN682_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001988422	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 15, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001988422

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 15, 2024)

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, SCV001988422.3

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

Description

Reported using an alternate transcript of the gene; Reported in a patient with developmental delay, seizures and high myopia (PMID: 29056246); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation as the last 51 amino acids are lost and replaced with 20 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 29056246)

#	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: Oct 8, 2024

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