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NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) AND Seizures, benign familial infantile, 5

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV001807074.10

Allele description [Variation Report for NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)]

NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)

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.576C>T (p.Asp192=)
HGVS:
  • NC_000012.12:g.51687181C>T
  • NG_021180.3:g.102224C>T
  • NM_001177984.3:c.576C>T
  • NM_001330260.2:c.576C>TMANE SELECT
  • NM_001369788.1:c.576C>T
  • NM_014191.4:c.576C>T
  • NM_014191.4:c.576C>T
  • NP_001171455.1:p.Asp192=
  • NP_001317189.1:p.Asp192=
  • NP_001356717.1:p.Asp192=
  • NP_055006.1:p.Asp192=
  • LRG_1389t1:c.576C>T
  • LRG_1389t2:c.576C>T
  • LRG_1389:g.102224C>T
  • LRG_1389p1:p.Asp192=
  • LRG_1389p2:p.Asp192=
  • NC_000012.11:g.52080965C>T
  • NC_000012.12:g.51687181C>T
  • NM_014191.2:c.576C>T
  • NM_014191.3:c.576C>T
Links:
dbSNP: rs4761829
NCBI 1000 Genomes Browser:
rs4761829
Molecular consequence:
  • NM_001177984.3:c.576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330260.2:c.576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369788.1:c.576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014191.4:c.576C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Seizures, benign familial infantile, 5 (BFIS5)
Synonyms:
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5
Identifiers:
MONDO: MONDO:0014903; MedGen: C4310728; Orphanet: 306; OMIM: 617080

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002054563Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 15, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002054563.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024