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NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser) AND Continuous spike and waves during slow sleep

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 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:
RCV001847823.9

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)]

NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)

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.2329C>T (p.Pro777Ser)
Other names:
p.P777S:CCC>TCC
HGVS:
  • NC_000020.11:g.63406934G>A
  • NG_009004.2:g.70707C>T
  • NM_001382235.1:c.2383C>T
  • NM_004518.6:c.2245C>T
  • NM_172106.3:c.2275C>T
  • NM_172107.4:c.2329C>TMANE SELECT
  • NM_172108.5:c.2236C>T
  • NP_001369164.1:p.Pro795Ser
  • NP_004509.2:p.Pro749Ser
  • NP_742104.1:p.Pro759Ser
  • NP_742105.1:p.Pro777Ser
  • NP_742106.1:p.Pro746Ser
  • NC_000020.10:g.62038287G>A
  • NM_172107.2:c.2329C>T
  • NM_172109.1:c.*26811C>T
Protein change:
P746S
Links:
dbSNP: rs748400155
NCBI 1000 Genomes Browser:
rs748400155
Molecular consequence:
  • NM_001382235.1:c.2383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004518.6:c.2245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.2275C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.2329C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.2236C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Continuous spike and waves during slow sleep
Identifiers:
MedGen: C3806403; Human Phenotype Ontology: HP:0031491

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494563Neurogenetics Laboratory - MEYER, AOU Meyer
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 16, 2016) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1noclinical 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 Neurogenetics Laboratory - MEYER, AOU Meyer, SCV000494563.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 8, 2024