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NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Dec 16, 2023
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:
RCV000179033.7

Allele description [Variation Report for NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)]

NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)

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.701C>T (p.Thr234Ile)
HGVS:
  • NC_000020.11:g.63442521G>A
  • NG_009004.2:g.35120C>T
  • NM_004518.6:c.701C>T
  • NM_172106.3:c.701C>T
  • NM_172107.4:c.701C>TMANE SELECT
  • NM_172108.5:c.701C>T
  • NM_172109.3:c.701C>T
  • NP_004509.2:p.Thr234Ile
  • NP_742104.1:p.Thr234Ile
  • NP_742105.1:p.Thr234Ile
  • NP_742106.1:p.Thr234Ile
  • NP_742107.1:p.Thr234Ile
  • NC_000020.10:g.62073874G>A
  • NM_172107.2:c.701C>T
Protein change:
T234I
Links:
dbSNP: rs794727741
NCBI 1000 Genomes Browser:
rs794727741
Molecular consequence:
  • NM_004518.6:c.701C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.701C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.701C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.701C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.701C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005327124GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Dec 16, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000231222.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV005327124.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in an individual with seizures and developmental delay, though parental segregation was not included (PMID: 29056246); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the transmembrane segment S5; Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25818041, 29720203, 29056246)

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000231222Eurofins Ntd Llc (ga)
flagged submission
Reason: Claim with insufficient supporting evidence
Notes: None

(EGL Classification Definitions 2015)		Uncertain significance
(Jun 27, 2014) 		germlineclinical testing

Citation Link

Last Updated: Oct 8, 2024