NM_001037.5(SCN1B):c.448+4_448+12del AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 9, 2023
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:: RCV000598805.2

Allele description [Variation Report for NM_001037.5(SCN1B):c.448+4_448+12del]

NM_001037.5(SCN1B):c.448+4_448+12del

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+4_448+12del

HGVS:

NC_000019.10:g.35033743_35033751del
NG_013359.1:g.8056_8064del
NM_001037.5:c.448+4_448+12delMANE SELECT
NM_001321605.2:c.349+4_349+12del
NM_199037.5:c.452_460del
NP_950238.1:p.Glu151_Gly153del
LRG_420t1:c.448+4_448+12del
LRG_420:g.8056_8064del
NC_000019.9:g.35524643_35524651del
NC_000019.9:g.35524647_35524655del
NM_001037.4:c.448+4_448+12delAGTCGGGTG

Links:

dbSNP: rs1322172446

NCBI 1000 Genomes Browser:

rs1322172446

Molecular consequence:

NM_199037.5:c.452_460del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001037.5:c.448+4_448+12del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001321605.2:c.349+4_349+12del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000710737	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jan 9, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710737

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jan 9, 2023)

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, SCV000710737.3

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

Description

Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (gnomAD); 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: Sep 29, 2024

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