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NM_002576.5(PAK1):c.251C>G (p.Thr84Arg) AND Intellectual developmental disorder with macrocephaly, seizures, and speech delay

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003236756.1

Allele description [Variation Report for NM_002576.5(PAK1):c.251C>G (p.Thr84Arg)]

NM_002576.5(PAK1):c.251C>G (p.Thr84Arg)

Gene:
PAK1:p21 (RAC1) activated kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_002576.5(PAK1):c.251C>G (p.Thr84Arg)
HGVS:
  • NC_000011.10:g.77379934G>C
  • NG_029900.2:g.99130C>G
  • NG_029900.3:g.155075C>G
  • NM_001128620.2:c.251C>G
  • NM_001376268.1:c.251C>G
  • NM_001376269.1:c.251C>G
  • NM_001376270.1:c.251C>G
  • NM_001376271.1:c.251C>G
  • NM_001376272.1:c.251C>G
  • NM_001376273.1:c.251C>G
  • NM_001376274.1:c.251C>G
  • NM_001376275.1:c.251C>G
  • NM_001376276.1:c.251C>G
  • NM_001376277.1:c.251C>G
  • NM_001376278.1:c.251C>G
  • NM_001376279.1:c.251C>G
  • NM_001376280.1:c.251C>G
  • NM_001376281.1:c.251C>G
  • NM_001376282.1:c.251C>G
  • NM_001376283.1:c.251C>G
  • NM_001376284.1:c.251C>G
  • NM_001376285.1:c.251C>G
  • NM_001376286.1:c.251C>G
  • NM_001376287.1:c.251C>G
  • NM_001376288.1:c.251C>G
  • NM_001376289.1:c.251C>G
  • NM_001376290.1:c.251C>G
  • NM_001376291.1:c.251C>G
  • NM_001376292.1:c.251C>G
  • NM_001376293.1:c.251C>G
  • NM_001376294.1:c.251C>G
  • NM_001376295.1:c.251C>G
  • NM_001376301.1:c.191-5569C>G
  • NM_001376302.1:c.-44C>G
  • NM_001376303.1:c.251C>G
  • NM_001376304.1:c.-3-546C>G
  • NM_001376305.1:c.-44C>G
  • NM_002576.5:c.251C>GMANE SELECT
  • NP_001122092.1:p.Thr84Arg
  • NP_001363197.1:p.Thr84Arg
  • NP_001363198.1:p.Thr84Arg
  • NP_001363199.1:p.Thr84Arg
  • NP_001363200.1:p.Thr84Arg
  • NP_001363201.1:p.Thr84Arg
  • NP_001363202.1:p.Thr84Arg
  • NP_001363203.1:p.Thr84Arg
  • NP_001363204.1:p.Thr84Arg
  • NP_001363205.1:p.Thr84Arg
  • NP_001363206.1:p.Thr84Arg
  • NP_001363207.1:p.Thr84Arg
  • NP_001363208.1:p.Thr84Arg
  • NP_001363209.1:p.Thr84Arg
  • NP_001363210.1:p.Thr84Arg
  • NP_001363211.1:p.Thr84Arg
  • NP_001363212.1:p.Thr84Arg
  • NP_001363213.1:p.Thr84Arg
  • NP_001363214.1:p.Thr84Arg
  • NP_001363215.1:p.Thr84Arg
  • NP_001363216.1:p.Thr84Arg
  • NP_001363217.1:p.Thr84Arg
  • NP_001363218.1:p.Thr84Arg
  • NP_001363219.1:p.Thr84Arg
  • NP_001363220.1:p.Thr84Arg
  • NP_001363221.1:p.Thr84Arg
  • NP_001363222.1:p.Thr84Arg
  • NP_001363223.1:p.Thr84Arg
  • NP_001363224.1:p.Thr84Arg
  • NP_001363232.1:p.Thr84Arg
  • NP_002567.3:p.Thr84Arg
  • NC_000011.9:g.77090979G>C
  • NR_164797.1:n.467C>G
  • NR_164798.1:n.470C>G
Protein change:
T84R
Molecular consequence:
  • NM_001376302.1:c.-44C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001376305.1:c.-44C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001376301.1:c.191-5569C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376304.1:c.-3-546C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128620.2:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376268.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376269.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376270.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376271.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376272.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376273.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376274.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376275.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376276.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376277.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376278.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376279.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376280.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376281.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376282.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376283.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376284.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376285.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376286.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376287.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376288.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376289.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376290.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376291.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376292.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376293.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376294.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376295.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376303.1:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002576.5:c.251C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164797.1:n.467C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164798.1:n.470C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Identifiers:
MONDO: MONDO:0032568; MedGen: C4748428; OMIM: 618158

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003935159Pediatric Neurology, Shengjing Hospital of China Medical University
no assertion criteria provided
Likely pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Pediatric Neurology, Shengjing Hospital of China Medical University, SCV003935159.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

PS2+PM1+PM2_Supporting+PP2+PP3=Likely pathogenic

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 1, 2023