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NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 1, 2020
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:
RCV001201169.2

Allele description [Variation Report for NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)]

NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)

Gene:
KCNN2:potassium calcium-activated channel subfamily N member 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
5q22.3
Genomic location:
Preferred name:
NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)
Other names:
I288S
HGVS:
  • NC_000005.10:g.114404717_114404718delinsTC
  • NM_001372233.1:c.1696_1697delinsTC
  • NM_021614.4:c.1498_1499delinsTCMANE SELECT
  • NP_001359162.1:p.Ile566Ser
  • NP_067627.3:p.Ile500Ser
  • NC_000005.9:g.113740414_113740415delinsTC
  • NM_021614.3:c.862_863delinsTC
Protein change:
I500S; ILE288SER
Links:
OMIM: 605879.0004; dbSNP: rs1758880343
NCBI 1000 Genomes Browser:
rs1758880343
Molecular consequence:
  • NM_001372233.1:c.1696_1697delinsTC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021614.4:c.1498_1499delinsTC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Autistic behavior
Identifiers:
MedGen: C0856975; Human Phenotype Ontology: HP:0000729
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Motor tics
Identifiers:
MedGen: C0751900; Human Phenotype Ontology: HP:0100034

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001371849Institute for Human Genetics, University Hospital Essen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 1, 2020) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not 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 for Human Genetics, University Hospital Essen, SCV001371849.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 8, 2024