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NM_002576.5(PAK1):c.424T>C (p.Tyr142His) AND Intellectual developmental disorder with macrocephaly, seizures, and speech delay

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 4, 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:
RCV002249119.1

Allele description [Variation Report for NM_002576.5(PAK1):c.424T>C (p.Tyr142His)]

NM_002576.5(PAK1):c.424T>C (p.Tyr142His)

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.424T>C (p.Tyr142His)
HGVS:
  • NC_000011.10:g.77379256A>G
  • NG_029900.2:g.99808T>C
  • NM_001128620.2:c.424T>C
  • NM_001376268.1:c.424T>C
  • NM_001376269.1:c.424T>C
  • NM_001376270.1:c.424T>C
  • NM_001376271.1:c.424T>C
  • NM_001376272.1:c.445T>C
  • NM_001376273.1:c.424T>C
  • NM_001376274.1:c.424T>C
  • NM_001376275.1:c.424T>C
  • NM_001376276.1:c.424T>C
  • NM_001376277.1:c.424T>C
  • NM_001376278.1:c.424T>C
  • NM_001376279.1:c.424T>C
  • NM_001376280.1:c.424T>C
  • NM_001376281.1:c.424T>C
  • NM_001376282.1:c.424T>C
  • NM_001376283.1:c.424T>C
  • NM_001376284.1:c.424T>C
  • NM_001376285.1:c.424T>C
  • NM_001376286.1:c.424T>C
  • NM_001376287.1:c.424T>C
  • NM_001376288.1:c.424T>C
  • NM_001376289.1:c.424T>C
  • NM_001376290.1:c.424T>C
  • NM_001376291.1:c.424T>C
  • NM_001376292.1:c.424T>C
  • NM_001376293.1:c.424T>C
  • NM_001376294.1:c.424T>C
  • NM_001376295.1:c.424T>C
  • NM_001376301.1:c.191-4891T>C
  • NM_001376302.1:c.130T>C
  • NM_001376303.1:c.424T>C
  • NM_001376304.1:c.130T>C
  • NM_001376305.1:c.130T>C
  • NM_002576.5:c.424T>CMANE SELECT
  • NP_001122092.1:p.Tyr142His
  • NP_001363197.1:p.Tyr142His
  • NP_001363198.1:p.Tyr142His
  • NP_001363199.1:p.Tyr142His
  • NP_001363200.1:p.Tyr142His
  • NP_001363201.1:p.Tyr149His
  • NP_001363202.1:p.Tyr142His
  • NP_001363203.1:p.Tyr142His
  • NP_001363204.1:p.Tyr142His
  • NP_001363205.1:p.Tyr142His
  • NP_001363206.1:p.Tyr142His
  • NP_001363207.1:p.Tyr142His
  • NP_001363208.1:p.Tyr142His
  • NP_001363209.1:p.Tyr142His
  • NP_001363210.1:p.Tyr142His
  • NP_001363211.1:p.Tyr142His
  • NP_001363212.1:p.Tyr142His
  • NP_001363213.1:p.Tyr142His
  • NP_001363214.1:p.Tyr142His
  • NP_001363215.1:p.Tyr142His
  • NP_001363216.1:p.Tyr142His
  • NP_001363217.1:p.Tyr142His
  • NP_001363218.1:p.Tyr142His
  • NP_001363219.1:p.Tyr142His
  • NP_001363220.1:p.Tyr142His
  • NP_001363221.1:p.Tyr142His
  • NP_001363222.1:p.Tyr142His
  • NP_001363223.1:p.Tyr142His
  • NP_001363224.1:p.Tyr142His
  • NP_001363231.1:p.Tyr44His
  • NP_001363232.1:p.Tyr142His
  • NP_001363233.1:p.Tyr44His
  • NP_001363234.1:p.Tyr44His
  • NP_002567.3:p.Tyr142His
  • NC_000011.9:g.77090301A>G
  • NR_164797.1:n.640T>C
  • NR_164798.1:n.643T>C
Protein change:
Y142H
Links:
dbSNP: rs2137081192
NCBI 1000 Genomes Browser:
rs2137081192
Molecular consequence:
  • NM_001376301.1:c.191-4891T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128620.2:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376268.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376269.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376270.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376271.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376272.1:c.445T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376273.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376274.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376275.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376276.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376277.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376278.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376279.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376280.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376281.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376282.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376283.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376284.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376285.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376286.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376287.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376288.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376289.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376290.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376291.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376292.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376293.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376294.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376295.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376302.1:c.130T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376303.1:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376304.1:c.130T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376305.1:c.130T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002576.5:c.424T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164797.1:n.640T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164798.1:n.643T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002517349Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Likely pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002517349.1

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

Last Updated: Dec 24, 2023