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NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) AND Febrile seizures, familial, 8

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 5, 2020
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:
RCV003225064.1

Allele description

NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)

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.901G>A (p.Gly301Ser)
HGVS:
  • NC_000020.11:g.63439624C>T
  • NG_009004.2:g.38017G>A
  • NM_004518.6:c.901G>A
  • NM_172106.3:c.901G>A
  • NM_172107.4:c.901G>AMANE SELECT
  • NM_172108.5:c.901G>A
  • NM_172109.3:c.901G>A
  • NP_004509.2:p.Gly301Ser
  • NP_742104.1:p.Gly301Ser
  • NP_742105.1:p.Gly301Ser
  • NP_742106.1:p.Gly301Ser
  • NP_742107.1:p.Gly301Ser
  • NC_000020.10:g.62070977C>T
  • NM_172107.2:c.901G>A
  • NM_172107.3:c.901G>A
Protein change:
G301S
Links:
dbSNP: rs1057516099
NCBI 1000 Genomes Browser:
rs1057516099
Molecular consequence:
  • NM_004518.6:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Febrile seizures, familial, 8 (FEB8)
Synonyms:
CONVULSIONS, FAMILIAL FEBRILE, 8
Identifiers:
MONDO: MONDO:0011891; MedGen: C1969810; Orphanet: 36387; OMIM: 607681

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003921971Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 5, 2020) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, SCV003921971.1

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

Description

0103 - Dominant negative and loss of function are known mechanisms of disease in this gene and are associated with early infantile epileptic encephalopathy 7 (EEIE) (MIM#613720) (PMID: 24318194). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to serine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0603 - Missense variant in a region that is highly intolerant to missense variation (high constraint region in DECIPHER). (SP) 0703 - Other missense variants comparable to the one identified in this case have moderate previous evidence for pathogenicity. Two alternative missense changes (p.Gly301Ser, p.Gly301Val) have been reported as pathogenic, likely pathogenic and as a VUS (ClinVar, LOVD). One report notes the patient was de novo. (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as pathogenic and likely pathogenic, and has been observed in several de novo patients with EEIE (ClinVar, LOVD, PMID 25959266). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed) (by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024