NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764287.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)]

NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
Other names:
p.H127D:CAT>GAT
HGVS:
  • NC_000002.12:g.166058574G>C
  • NG_011906.1:g.20066C>G
  • NM_001165963.4:c.379C>GMANE SELECT
  • NM_001165963.4:c.379C>G
  • NM_001165964.3:c.379C>G
  • NM_001202435.3:c.379C>G
  • NM_001353948.2:c.379C>G
  • NM_001353949.2:c.379C>G
  • NM_001353950.2:c.379C>G
  • NM_001353951.2:c.379C>G
  • NM_001353952.2:c.379C>G
  • NM_001353954.2:c.379C>G
  • NM_001353955.2:c.379C>G
  • NM_001353957.2:c.379C>G
  • NM_001353958.2:c.379C>G
  • NM_001353960.2:c.379C>G
  • NM_001353961.2:c.-2047C>G
  • NM_006920.6:c.379C>G
  • NP_001159435.1:p.His127Asp
  • NP_001159436.1:p.His127Asp
  • NP_001189364.1:p.His127Asp
  • NP_001340877.1:p.His127Asp
  • NP_001340878.1:p.His127Asp
  • NP_001340879.1:p.His127Asp
  • NP_001340880.1:p.His127Asp
  • NP_001340881.1:p.His127Asp
  • NP_001340883.1:p.His127Asp
  • NP_001340884.1:p.His127Asp
  • NP_001340886.1:p.His127Asp
  • NP_001340887.1:p.His127Asp
  • NP_001340889.1:p.His127Asp
  • NP_008851.3:p.His127Asp
  • LRG_8:g.20066C>G
  • NC_000002.11:g.166915084G>C
  • NM_001165963.1:c.379C>G
  • NR_148667.2:n.765C>G
  • P35498:p.His127Asp
Protein change:
H127D
Links:
UniProtKB: P35498#VAR_073450; dbSNP: rs148442069
NCBI 1000 Genomes Browser:
rs148442069
Molecular consequence:
  • NM_001353961.2:c.-2047C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001165963.4:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.765C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial hemiplegic migraine type 3 (FHM3)
Identifiers:
MONDO: MONDO:0012320; MedGen: C1864987; Orphanet: 569; OMIM: 609634
Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208
Name:
Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2)
Synonyms:
GEFS+, TYPE 2
Identifiers:
MONDO: MONDO:0011461; MedGen: C1858673; Orphanet: 36387; OMIM: 604403

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000895306Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics,Fulgent Genetics, SCV000895306.1

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

Last Updated: Oct 2, 2021

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