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NM_001277.3(CHKA):c.14dup (p.Cys6fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 15, 2021
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:
RCV001785384.2

Allele description [Variation Report for NM_001277.3(CHKA):c.14dup (p.Cys6fs)]

NM_001277.3(CHKA):c.14dup (p.Cys6fs)

Gene:
CHKA:choline kinase alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_001277.3(CHKA):c.14dup (p.Cys6fs)
HGVS:
  • NC_000011.10:g.68121165dup
  • NM_001277.3:c.14dupMANE SELECT
  • NM_001376219.1:c.14dup
  • NM_001376220.1:c.14dup
  • NM_001376221.1:c.-351dup
  • NM_001376222.1:c.-351dup
  • NM_212469.2:c.14dup
  • NP_001268.2:p.Cys6fs
  • NP_001363148.1:p.Cys6fs
  • NP_001363149.1:p.Cys6fs
  • NP_997634.1:p.Cys6fs
  • NC_000011.9:g.67888632dup
  • NM_001277.2:c.14dup
  • NR_164782.1:n.225dup
Protein change:
C6fs
Links:
OMIM: 118491.0003; dbSNP: rs2153034844
NCBI 1000 Genomes Browser:
rs2153034844
Molecular consequence:
  • NM_001376221.1:c.-351dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001376222.1:c.-351dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001277.3:c.14dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376219.1:c.14dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376220.1:c.14dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_212469.2:c.14dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_164782.1:n.225dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Intellectual disability, severe
Identifiers:
MedGen: C0036857; Human Phenotype Ontology: HP:0010864

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002026414Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 15, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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, University of Leipzig Medical Center, SCV002026414.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Criteria applied: PVS1, PM2_Supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024