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NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 28, 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:
RCV000660441.7

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu)]

NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu)

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.1229C>T (p.Pro410Leu)
HGVS:
  • NC_000020.11:g.63424195G>A
  • NG_009004.2:g.53446C>T
  • NM_004518.6:c.1199C>T
  • NM_172106.3:c.1229C>T
  • NM_172107.4:c.1229C>TMANE SELECT
  • NM_172108.5:c.1229C>T
  • NP_004509.2:p.Pro400Leu
  • NP_742104.1:p.Pro410Leu
  • NP_742105.1:p.Pro410Leu
  • NP_742106.1:p.Pro410Leu
  • NC_000020.10:g.62055548G>A
  • NM_172107.2:c.1229C>T
  • NM_172107.3:c.1229C>T
Protein change:
P400L
Links:
dbSNP: rs752579642
NCBI 1000 Genomes Browser:
rs752579642
Molecular consequence:
  • NM_004518.6:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Moderate decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0086]
  • Normal rate of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0011]
  • Severe hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0031]

Condition(s)

Name:
Seizures, benign familial neonatal, 1
Synonyms:
Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:
MONDO: MONDO:0007365; MedGen: C3149074; Orphanet: 1949; OMIM: 121200
Name:
Developmental and epileptic encephalopathy, 7 (DEE7)
Synonyms:
Early infantile epileptic encephalopathy 7; KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:
MONDO: MONDO:0013387; MedGen: C3150986; Orphanet: 439218; OMIM: 613720

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000782533Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 28, 2016) 		paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000782533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024