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NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 8, 2024
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:
RCV004006247.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)]

NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)

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.763A>C (p.Lys255Gln)
HGVS:
  • NC_000020.11:g.63442459T>G
  • NG_009004.2:g.35182A>C
  • NM_001382235.1:c.763A>C
  • NM_004518.6:c.763A>C
  • NM_172106.3:c.763A>C
  • NM_172107.4:c.763A>CMANE SELECT
  • NM_172108.5:c.763A>C
  • NM_172109.3:c.763A>C
  • NP_001369164.1:p.Lys255Gln
  • NP_004509.2:p.Lys255Gln
  • NP_742104.1:p.Lys255Gln
  • NP_742105.1:p.Lys255Gln
  • NP_742106.1:p.Lys255Gln
  • NP_742107.1:p.Lys255Gln
  • NC_000020.10:g.62073812T>G
Protein change:
K255Q
Molecular consequence:
  • NM_001382235.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004518.6:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004814188Institute of Human Genetics, Heidelberg University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 8, 2024) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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 Institute of Human Genetics, Heidelberg University, SCV004814188.1

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

Last Updated: Apr 20, 2024