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NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2012
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:
RCV000187888.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys)]

NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys)

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.995G>A (p.Arg332Lys)
Other names:
p.R332K:AGG>AAG
HGVS:
  • NC_000020.11:g.63438653C>T
  • NG_009004.2:g.38988G>A
  • NM_004518.6:c.995G>A
  • NM_172106.3:c.995G>A
  • NM_172107.4:c.995G>AMANE SELECT
  • NM_172108.5:c.995G>A
  • NM_172109.3:c.995G>A
  • NP_004509.2:p.Arg332Lys
  • NP_742104.1:p.Arg332Lys
  • NP_742105.1:p.Arg332Lys
  • NP_742106.1:p.Arg332Lys
  • NP_742107.1:p.Arg332Lys
  • NC_000020.10:g.62070006C>T
  • NM_172107.2:c.995G>A
Protein change:
R332K
Links:
dbSNP: rs796052640
NCBI 1000 Genomes Browser:
rs796052640
Molecular consequence:
  • NM_004518.6:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241490GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 31, 2012) 		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, SCV000241490.11

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

Description

p.Arg332Lys (AGG>AAG):c.995 G>A in exon 7 of the KCNQ2 gene (NM_172107.2)The Arg332Lys missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Arg332Lys in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as Arginine and Lysine are both positively charged amino acids. However, it alters a highly conserved position in the C-terminal region of the protein, and other missense mutations in this region of the protein have been reported in association with benign familial neonatal seizures. Several in silico algorithms predict Arg332Lys may be damaging to protein structure/function, although another model indicates it may be benign. Therefore, based on the currently available information, it is unclear whether Arg332Lys is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Apr 23, 2022