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NM_172107.4(KCNQ2):c.935T>C (p.Leu312Ser) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 15, 2016
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:
RCV000413460.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.935T>C (p.Leu312Ser)]

NM_172107.4(KCNQ2):c.935T>C (p.Leu312Ser)

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.935T>C (p.Leu312Ser)
HGVS:
  • NC_000020.11:g.63438713A>G
  • NG_009004.2:g.38928T>C
  • NM_004518.6:c.935T>C
  • NM_172106.3:c.935T>C
  • NM_172107.4:c.935T>CMANE SELECT
  • NM_172108.5:c.935T>C
  • NM_172109.3:c.935T>C
  • NP_004509.2:p.Leu312Ser
  • NP_742104.1:p.Leu312Ser
  • NP_742105.1:p.Leu312Ser
  • NP_742106.1:p.Leu312Ser
  • NP_742107.1:p.Leu312Ser
  • NC_000020.10:g.62070066A>G
  • NM_172107.2:c.935T>C
Protein change:
L312S
Links:
dbSNP: rs1057518619
NCBI 1000 Genomes Browser:
rs1057518619
Molecular consequence:
  • NM_004518.6:c.935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.935T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.935T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492425GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 15, 2016) 		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, SCV000492425.1

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

Description

A novel L312S variant that is likely pathogenic has been identified in the KCNQ2 gene. The L312S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L312S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L312S 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 transmembrane segment S6. 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