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NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2022
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:
RCV003228114.1

Allele description [Variation Report for NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)]

NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)

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.4835C>A (p.Ala1612Glu)
HGVS:
  • NC_000002.12:g.8731201G>T
  • NG_053168.2:g.111412C>A
  • NM_001348729.2:c.4838C>A
  • NM_001348731.2:c.4781C>A
  • NM_001348732.1:c.4778C>A
  • NM_001348732.2:c.4778C>A
  • NM_001348734.2:c.4667C>A
  • NM_001348735.2:c.4664C>A
  • NM_001348736.2:c.4538C>A
  • NM_001348738.2:c.3996+2243C>A
  • NM_001348739.2:c.3885+2243C>A
  • NM_001348740.2:c.3885+2243C>A
  • NM_001348741.2:c.3882+2243C>A
  • NM_001348742.2:c.3882+2243C>A
  • NM_001348743.2:c.3882+2243C>A
  • NM_020738.4:c.4835C>AMANE SELECT
  • NP_001335658.1:p.Ala1613Glu
  • NP_001335660.1:p.Ala1594Glu
  • NP_001335661.1:p.Ala1593Glu
  • NP_001335663.1:p.Ala1556Glu
  • NP_001335664.1:p.Ala1555Glu
  • NP_001335665.1:p.Ala1513Glu
  • NP_065789.1:p.Ala1612Glu
  • NC_000002.11:g.8871331G>T
  • NG_053168.1:g.111439C>A
  • NM_020738.2:c.4835C>A
Protein change:
A1513E
Molecular consequence:
  • NM_001348738.2:c.3996+2243C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348739.2:c.3885+2243C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348740.2:c.3885+2243C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348741.2:c.3882+2243C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348742.2:c.3882+2243C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348743.2:c.3882+2243C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348729.2:c.4838C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348731.2:c.4781C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348732.2:c.4778C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348734.2:c.4667C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348735.2:c.4664C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348736.2:c.4538C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020738.4:c.4835C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925256New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Aug 3, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV003925256.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024