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NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu) AND KCNQ2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 12, 2021
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:
RCV001563651.5

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)]

NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)

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.1927A>C (p.Ile643Leu)
HGVS:
  • NC_000020.11:g.63407336T>G
  • NG_009004.2:g.70305A>C
  • NM_004518.6:c.1843A>C
  • NM_172106.3:c.1873A>C
  • NM_172107.4:c.1927A>CMANE SELECT
  • NM_172108.5:c.1834A>C
  • NP_004509.2:p.Ile615Leu
  • NP_742104.1:p.Ile625Leu
  • NP_742105.1:p.Ile643Leu
  • NP_742106.1:p.Ile612Leu
  • NC_000020.10:g.62038689T>G
  • NM_172107.2:c.1927A>C
Protein change:
I612L
Links:
dbSNP: rs1021032210
NCBI 1000 Genomes Browser:
rs1021032210
Molecular consequence:
  • NM_004518.6:c.1843A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.1873A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.1927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.1834A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
KCNQ2-related disorder
Synonyms:
KCNQ2-Related Disorders; KCNQ2-related condition
Identifiers:
MedGen: CN169299

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001786638Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Jan 12, 2021) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001786638.1

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

Description

The KCNQ2 c.1927A>C (p.Ile643Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Ile643Leu variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database though this is based on one allele in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Ile643Leu variant is classified as a variant of uncertain significance for KCNQ2-related disorders.

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

Last Updated: Oct 20, 2024