NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr) AND Generalized epilepsy with febrile seizures plus, type 2

Clinical significance:Likely pathogenic (Last evaluated: May 3, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000770782.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)]

NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
HGVS:
  • NC_000002.12:g.165992209A>G
  • NG_011906.1:g.86431T>C
  • NM_001165963.4:c.5066T>CMANE SELECT
  • NM_001165964.3:c.4982T>C
  • NM_001202435.3:c.5066T>C
  • NM_001353948.2:c.5066T>C
  • NM_001353949.2:c.5033T>C
  • NM_001353950.2:c.5033T>C
  • NM_001353951.2:c.5033T>C
  • NM_001353952.2:c.5033T>C
  • NM_001353954.2:c.5030T>C
  • NM_001353955.2:c.5030T>C
  • NM_001353957.2:c.4982T>C
  • NM_001353958.2:c.4982T>C
  • NM_001353960.2:c.4979T>C
  • NM_001353961.2:c.2624T>C
  • NM_006920.6:c.5033T>C
  • NP_001159435.1:p.Met1689Thr
  • NP_001159436.1:p.Met1661Thr
  • NP_001189364.1:p.Met1689Thr
  • NP_001340877.1:p.Met1689Thr
  • NP_001340878.1:p.Met1678Thr
  • NP_001340879.1:p.Met1678Thr
  • NP_001340880.1:p.Met1678Thr
  • NP_001340881.1:p.Met1678Thr
  • NP_001340883.1:p.Met1677Thr
  • NP_001340884.1:p.Met1677Thr
  • NP_001340886.1:p.Met1661Thr
  • NP_001340887.1:p.Met1661Thr
  • NP_001340889.1:p.Met1660Thr
  • NP_001340890.1:p.Met875Thr
  • NP_008851.3:p.Met1678Thr
  • LRG_8:g.86431T>C
  • NC_000002.11:g.166848719A>G
  • NM_001165963.1:c.5066T>C
  • NM_001165963.2:c.5066T>C
  • NR_148667.2:n.5483T>C
Protein change:
M1660T
Links:
Molecular consequence:
  • NM_001165963.4:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4982T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4982T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4982T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4979T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2624T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5483T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2)
Synonyms:
GEFS+, TYPE 2
Identifiers:
MONDO: MONDO:0011461; MedGen: C1858673; Orphanet: 36387; OMIM: 604403

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000902247Génétique des Maladies du Développement, Hospices Civils de Lyoncriteria provided, single submitter
Likely pathogenic
(May 3, 2019)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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 Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV000902247.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

Familial segregation

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

Support Center