U.S. flag

An official website of the United States government

NM_020738.4(KIDINS220):c.4053+1G>A AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 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:
RCV004547415.1

Allele description [Variation Report for NM_020738.4(KIDINS220):c.4053+1G>A]

NM_020738.4(KIDINS220):c.4053+1G>A

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.4053+1G>A
HGVS:
  • NC_000002.12:g.8733443C>T
  • NG_053168.1:g.109197G>A
  • NG_053168.2:g.109170G>A
  • NM_001348729.2:c.4056+1G>A
  • NM_001348731.2:c.3999+1G>A
  • NM_001348732.2:c.3996+1G>A
  • NM_001348734.2:c.3885+1G>A
  • NM_001348735.2:c.3882+1G>A
  • NM_001348736.2:c.3756+1G>A
  • NM_001348738.2:c.3996+1G>A
  • NM_001348739.2:c.3885+1G>A
  • NM_001348740.2:c.3885+1G>A
  • NM_001348741.2:c.3882+1G>A
  • NM_001348742.2:c.3882+1G>A
  • NM_001348743.2:c.3882+1G>A
  • NM_020738.4:c.4053+1G>AMANE SELECT
  • NC_000002.11:g.8873573C>T
Molecular consequence:
  • NM_001348729.2:c.4056+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348731.2:c.3999+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348732.2:c.3996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348734.2:c.3885+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348735.2:c.3882+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348736.2:c.3756+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348738.2:c.3996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348739.2:c.3885+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348740.2:c.3885+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348741.2:c.3882+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348742.2:c.3882+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001348743.2:c.3882+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_020738.4:c.4053+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
Name:
Ventriculomegaly and arthrogryposis
Identifiers:
MONDO: MONDO:0859184; MedGen: C5561973; OMIM: 619501

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005043019Institute of Immunology and Genetics Kaiserslautern
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 25, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Immunology and Genetics Kaiserslautern, SCV005043019.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG Criteria: PVS1_M, PM2; Variant was found in heterozygous state

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

Last Updated: May 19, 2024