NM_001330260.2(SCN8A):c.1999-5del AND Inborn genetic diseases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 2, 2018
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:: RCV002311304.9

Allele description [Variation Report for NM_001330260.2(SCN8A):c.1999-5del]

NM_001330260.2(SCN8A):c.1999-5del

Gene:

SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_001330260.2(SCN8A):c.1999-5del

HGVS:

NC_000012.12:g.51745898del
NG_021180.3:g.160941del
NM_001177984.3:c.1999-5del
NM_001330260.2:c.1999-5delMANE SELECT
NM_001369788.1:c.1999-5del
NM_014191.4:c.1999-5del
LRG_1389t1:c.1999-5del
LRG_1389t2:c.1999-5del
LRG_1389:g.160941del
NC_000012.11:g.52139670del
NC_000012.11:g.52139682del
NM_014191.3:c.1999-5del
NM_014191.2:c.1999-5delT

Links:

Ambry Genetics: a882910; dbSNP: rs769940455

NCBI 1000 Genomes Browser:

rs769940455

Molecular consequence:

NM_001177984.3:c.1999-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001330260.2:c.1999-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369788.1:c.1999-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_014191.4:c.1999-5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000846044	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Nov 2, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000846044

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Nov 2, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000846044.5

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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