NM_172107.4(KCNQ2):c.436T>C (p.Trp146Arg) AND Neonatal encephalopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 1, 2022
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:
RCV003154088.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.436T>C (p.Trp146Arg)]

NM_172107.4(KCNQ2):c.436T>C (p.Trp146Arg)

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.436T>C (p.Trp146Arg)
HGVS:
  • NC_000020.11:g.63445316A>G
  • NG_009004.2:g.32325T>C
  • NM_001382235.1:c.436T>C
  • NM_004518.6:c.436T>C
  • NM_172106.3:c.436T>C
  • NM_172107.4:c.436T>CMANE SELECT
  • NM_172108.5:c.436T>C
  • NM_172109.3:c.436T>C
  • NP_001369164.1:p.Trp146Arg
  • NP_004509.2:p.Trp146Arg
  • NP_742104.1:p.Trp146Arg
  • NP_742105.1:p.Trp146Arg
  • NP_742106.1:p.Trp146Arg
  • NP_742107.1:p.Trp146Arg
  • NC_000020.10:g.62076669A>G
Protein change:
W146R
Molecular consequence:
  • NM_001382235.1:c.436T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004518.6:c.436T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.436T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.436T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.436T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.436T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Neonatal encephalopathy
Identifiers:
MedGen: C0235820

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003842163Changsha Kingmed Center For Clinical Laboratory, KingMed Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 1, 2022) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 Changsha Kingmed Center For Clinical Laboratory, KingMed Diagnostics, SCV003842163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1Bloodnot provided1not providednot providednot provided

Last Updated: Mar 26, 2023