NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala) AND Seizures, benign familial neonatal, 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000678134.3

Allele description [Variation Report for NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala)]

NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala)

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala)
HGVS:
  • NC_000020.11:g.63444700T>C
  • NG_009004.2:g.32941A>G
  • NM_004518.6:c.649A>G
  • NM_172106.3:c.649A>G
  • NM_172107.4:c.649A>GMANE SELECT
  • NM_172108.5:c.649A>G
  • NM_172109.3:c.649A>G
  • NP_004509.2:p.Thr217Ala
  • NP_742104.1:p.Thr217Ala
  • NP_742105.1:p.Thr217Ala
  • NP_742106.1:p.Thr217Ala
  • NP_742107.1:p.Thr217Ala
  • NC_000020.10:g.62076053T>C
  • NM_172107.2:c.649A>G
Protein change:
T217A
Links:
dbSNP: rs1057516089
NCBI 1000 Genomes Browser:
rs1057516089
Molecular consequence:
  • NM_004518.6:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.649A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Seizures, benign familial neonatal, 1
Synonyms:
Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:
MONDO: MONDO:0007365; MedGen: C3149074; Orphanet: 1949; OMIM: 121200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000484572GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels.

Surti TS, Huang L, Jan YN, Jan LY, Cooper EC.

Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17828-33. Epub 2005 Nov 30.

PubMed [citation]
PMID:
16319223
PMCID:
PMC1297712

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, et al.

Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.

PubMed [citation]
PMID:
23360469

Details of each submission

From GeneReviews, SCV000484572.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

BFIS (benign familial infantile seizures)

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

Last Updated: Feb 14, 2024