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NM_172107.4(KCNQ2):c.436T>A (p.Trp146Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 26, 2017
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:
RCV000498601.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.436T>A (p.Trp146Arg)]

NM_172107.4(KCNQ2):c.436T>A (p.Trp146Arg)

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.436T>A (p.Trp146Arg)
HGVS:
  • NC_000020.11:g.63445316A>T
  • NG_009004.2:g.32325T>A
  • NM_004518.6:c.436T>A
  • NM_172106.3:c.436T>A
  • NM_172107.4:c.436T>AMANE SELECT
  • NM_172108.5:c.436T>A
  • NM_172109.3:c.436T>A
  • NP_004509.2:p.Trp146Arg
  • NP_742104.1:p.Trp146Arg
  • NP_742105.1:p.Trp146Arg
  • NP_742106.1:p.Trp146Arg
  • NP_742107.1:p.Trp146Arg
  • NC_000020.10:g.62076669A>T
  • NM_172107.2:c.436T>A
Protein change:
W146R
Links:
dbSNP: rs1555873982
NCBI 1000 Genomes Browser:
rs1555873982
Molecular consequence:
  • NM_004518.6:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.436T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000590770GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 26, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000590770.2

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

Description

A variant of uncertain significance has been identified in the KCNQ2 gene. The W146R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W146R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The W146R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 23, 2022