NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) AND Epileptic encephalopathy, early infantile, 26

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Feb 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000656399.2

Allele description [Variation Report for NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)]

NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)

Gene:
KCNB1:potassium voltage-gated channel subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.13
Genomic location:
Preferred name:
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
HGVS:
  • NC_000020.11:g.49374377C>T
  • NG_041781.2:g.113268G>A
  • NM_004975.4:c.1183G>AMANE SELECT
  • NP_004966.1:p.Gly395Arg
  • NC_000020.10:g.47990914C>T
  • NM_004975.2:c.1183G>A
  • NM_004975.3:c.1183G>A
Protein change:
G395R
Links:
dbSNP: rs959316981
NCBI 1000 Genomes Browser:
rs959316981
Molecular consequence:
  • NM_004975.4:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Epileptic encephalopathy, early infantile, 26 (DEE26)
Synonyms:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26
Identifiers:
MONDO: MONDO:0014477; MedGen: C4015119; Orphanet: 442835; OMIM: 616056

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000778406Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Likely pathogenic
(Dec 8, 2016)
de novoclinical testing

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

SCV001429494Institute of Human Genetics, University of Leipzig Medical Centercriteria provided, single submitter
Uncertain significance
(Feb 14, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing
not providedgermlineyes1not 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000778406.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001429494.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 17, 2021

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