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NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 22, 2017
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:
RCV002348153.2

Allele description [Variation Report for NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=)]

NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=)

Gene:
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=)
HGVS:
  • NC_000012.12:g.51807000C>T
  • NG_021180.3:g.222043C>T
  • NM_001177984.3:c.5391C>T
  • NM_001330260.2:c.5514C>TMANE SELECT
  • NM_001369788.1:c.5391C>T
  • NM_014191.4:c.5514C>T
  • NP_001171455.1:p.Ser1797=
  • NP_001317189.1:p.Ser1838=
  • NP_001356717.1:p.Ser1797=
  • NP_055006.1:p.Ser1838=
  • LRG_1389t1:c.5514C>T
  • LRG_1389t2:c.5514C>T
  • LRG_1389:g.222043C>T
  • LRG_1389p1:p.Ser1838=
  • LRG_1389p2:p.Ser1838=
  • NC_000012.11:g.52200784C>T
  • NM_014191.2:c.5514C>T
  • NM_014191.3:c.5514C>T
Links:
dbSNP: rs372388512
NCBI 1000 Genomes Browser:
rs372388512
Molecular consequence:
  • NM_001177984.3:c.5391C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330260.2:c.5514C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369788.1:c.5391C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014191.4:c.5514C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002651102Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 22, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002651102.2

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

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

Last Updated: Sep 29, 2024