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NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His) AND Spastic paraplegia, intellectual disability, nystagmus, and obesity

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 19, 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:
RCV001730811.2

Allele description [Variation Report for NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)]

NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)

Gene:
KIDINS220:kinase D interacting substrate 220 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p25.1
Genomic location:
Preferred name:
NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)
HGVS:
  • NC_000002.12:g.8731212C>A
  • NG_053168.1:g.111428G>T
  • NM_001348729.2:c.4827G>T
  • NM_001348731.2:c.4770G>T
  • NM_001348732.2:c.4767G>T
  • NM_001348734.2:c.4656G>T
  • NM_001348735.2:c.4653G>T
  • NM_001348736.2:c.4527G>T
  • NM_001348738.2:c.3996+2232G>T
  • NM_001348739.2:c.3885+2232G>T
  • NM_001348740.2:c.3885+2232G>T
  • NM_001348741.2:c.3882+2232G>T
  • NM_001348742.2:c.3882+2232G>T
  • NM_001348743.2:c.3882+2232G>T
  • NM_020738.4:c.4824G>TMANE SELECT
  • NP_001335658.1:p.Gln1609His
  • NP_001335660.1:p.Gln1590His
  • NP_001335661.1:p.Gln1589His
  • NP_001335663.1:p.Gln1552His
  • NP_001335664.1:p.Gln1551His
  • NP_001335665.1:p.Gln1509His
  • NP_065789.1:p.Gln1608His
  • NC_000002.11:g.8871342C>A
  • NM_020738.2:c.4824G>T
Protein change:
Q1509H
Links:
dbSNP: rs1044280
NCBI 1000 Genomes Browser:
rs1044280
Molecular consequence:
  • NM_001348738.2:c.3996+2232G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348739.2:c.3885+2232G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348740.2:c.3885+2232G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348741.2:c.3882+2232G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348742.2:c.3882+2232G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348743.2:c.3882+2232G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348729.2:c.4827G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348731.2:c.4770G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348732.2:c.4767G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348734.2:c.4656G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348735.2:c.4653G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348736.2:c.4527G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020738.4:c.4824G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spastic paraplegia, intellectual disability, nystagmus, and obesity
Synonyms:
Spastic paraplegia, intellectual disability, nystagmus, and obesity;
Identifiers:
MONDO: MONDO:0015007; MedGen: C4284592; OMIM: 617296

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001981032Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 19, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001981032.1

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

Last Updated: Oct 13, 2024