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NM_172107.4(KCNQ2):c.986T>C (p.Phe329Ser) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 16, 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:
RCV000487056.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.986T>C (p.Phe329Ser)]

NM_172107.4(KCNQ2):c.986T>C (p.Phe329Ser)

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.986T>C (p.Phe329Ser)
HGVS:
  • NC_000020.11:g.63438662A>G
  • NG_009004.2:g.38979T>C
  • NM_004518.6:c.986T>C
  • NM_172106.3:c.986T>C
  • NM_172107.4:c.986T>CMANE SELECT
  • NM_172108.5:c.986T>C
  • NM_172109.3:c.986T>C
  • NP_004509.2:p.Phe329Ser
  • NP_742104.1:p.Phe329Ser
  • NP_742105.1:p.Phe329Ser
  • NP_742106.1:p.Phe329Ser
  • NP_742107.1:p.Phe329Ser
  • NC_000020.10:g.62070015A>G
  • NM_172107.2:c.986T>C
Protein change:
F329S
Links:
dbSNP: rs1064796535
NCBI 1000 Genomes Browser:
rs1064796535
Molecular consequence:
  • NM_004518.6:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.986T>C - 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
SCV000573341GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Feb 16, 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, SCV000573341.4

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

Description

A variant that is likely pathogenic has been identified in the KCNQ2 gene. The F329S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The F329S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F329S 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 conserved position predicted to be within the C-terminal cytoplasmic domain, and missense variants in nearby residues (H324R, R325G, R333W, R333Q) have been reported in the Human Gene Mutation Database in association with KCNQ2-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022