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NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 7, 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:
RCV003441710.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)]

NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)

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.740C>G (p.Ser247Trp)
HGVS:
  • NC_000020.11:g.63442482G>C
  • NG_009004.2:g.35159C>G
  • NM_004518.6:c.740C>G
  • NM_172106.3:c.740C>G
  • NM_172107.4:c.740C>GMANE SELECT
  • NM_172108.5:c.740C>G
  • NM_172109.3:c.740C>G
  • NP_004509.2:p.Ser247Trp
  • NP_742104.1:p.Ser247Trp
  • NP_742105.1:p.Ser247Trp
  • NP_742106.1:p.Ser247Trp
  • NP_742107.1:p.Ser247Trp
  • NC_000020.10:g.62073835G>C
  • NM_172107.2:c.740C>G
  • O43526:p.Ser247Trp
Protein change:
S247W; SER247TRP
Links:
UniProtKB: O43526#VAR_026991; OMIM: 602235.0008; dbSNP: rs74315392
NCBI 1000 Genomes Browser:
rs74315392
Molecular consequence:
  • NM_004518.6:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004170645GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 7, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV004170645.1

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

Description

Published functional studies demonstrate a damaging effect showing a reduction of the channel current (Dedek et al., 2003); Not observed at significant frequency in large population cohorts (gnomAD); The majority of missense variants in this gene are considered pathogenic (HGMD); This substitution is predicted to be within the transmembrane segment S5; This variant is associated with the following publications: (PMID: 19818940, 17129708, 19380078, 32770121, 12742592)

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

Last Updated: Sep 29, 2024