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NM_002576.5(PAK1):c.328T>A (p.Ser110Thr) AND Intellectual developmental disorder with macrocephaly, seizures, and speech delay

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2019
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:
RCV001785353.1

Allele description [Variation Report for NM_002576.5(PAK1):c.328T>A (p.Ser110Thr)]

NM_002576.5(PAK1):c.328T>A (p.Ser110Thr)

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.328T>A (p.Ser110Thr)
HGVS:
  • NC_000011.10:g.77379352A>T
  • NG_029900.2:g.99712T>A
  • NM_001128620.2:c.328T>A
  • NM_001376268.1:c.328T>A
  • NM_001376269.1:c.328T>A
  • NM_001376270.1:c.328T>A
  • NM_001376271.1:c.328T>A
  • NM_001376272.1:c.349T>A
  • NM_001376273.1:c.328T>A
  • NM_001376274.1:c.328T>A
  • NM_001376275.1:c.328T>A
  • NM_001376276.1:c.328T>A
  • NM_001376277.1:c.328T>A
  • NM_001376278.1:c.328T>A
  • NM_001376279.1:c.328T>A
  • NM_001376280.1:c.328T>A
  • NM_001376281.1:c.328T>A
  • NM_001376282.1:c.328T>A
  • NM_001376283.1:c.328T>A
  • NM_001376284.1:c.328T>A
  • NM_001376285.1:c.328T>A
  • NM_001376286.1:c.328T>A
  • NM_001376287.1:c.328T>A
  • NM_001376288.1:c.328T>A
  • NM_001376289.1:c.328T>A
  • NM_001376290.1:c.328T>A
  • NM_001376291.1:c.328T>A
  • NM_001376292.1:c.328T>A
  • NM_001376293.1:c.328T>A
  • NM_001376294.1:c.328T>A
  • NM_001376295.1:c.328T>A
  • NM_001376301.1:c.191-4987T>A
  • NM_001376302.1:c.34T>A
  • NM_001376303.1:c.328T>A
  • NM_001376304.1:c.34T>A
  • NM_001376305.1:c.34T>A
  • NM_002576.5:c.328T>AMANE SELECT
  • NP_001122092.1:p.Ser110Thr
  • NP_001363197.1:p.Ser110Thr
  • NP_001363198.1:p.Ser110Thr
  • NP_001363199.1:p.Ser110Thr
  • NP_001363200.1:p.Ser110Thr
  • NP_001363201.1:p.Ser117Thr
  • NP_001363202.1:p.Ser110Thr
  • NP_001363203.1:p.Ser110Thr
  • NP_001363204.1:p.Ser110Thr
  • NP_001363205.1:p.Ser110Thr
  • NP_001363206.1:p.Ser110Thr
  • NP_001363207.1:p.Ser110Thr
  • NP_001363208.1:p.Ser110Thr
  • NP_001363209.1:p.Ser110Thr
  • NP_001363210.1:p.Ser110Thr
  • NP_001363211.1:p.Ser110Thr
  • NP_001363212.1:p.Ser110Thr
  • NP_001363213.1:p.Ser110Thr
  • NP_001363214.1:p.Ser110Thr
  • NP_001363215.1:p.Ser110Thr
  • NP_001363216.1:p.Ser110Thr
  • NP_001363217.1:p.Ser110Thr
  • NP_001363218.1:p.Ser110Thr
  • NP_001363219.1:p.Ser110Thr
  • NP_001363220.1:p.Ser110Thr
  • NP_001363221.1:p.Ser110Thr
  • NP_001363222.1:p.Ser110Thr
  • NP_001363223.1:p.Ser110Thr
  • NP_001363224.1:p.Ser110Thr
  • NP_001363231.1:p.Ser12Thr
  • NP_001363232.1:p.Ser110Thr
  • NP_001363233.1:p.Ser12Thr
  • NP_001363234.1:p.Ser12Thr
  • NP_002567.3:p.Ser110Thr
  • NC_000011.9:g.77090397A>T
  • NR_164797.1:n.544T>A
  • NR_164798.1:n.547T>A
Protein change:
S110T
Links:
dbSNP: rs2137082609
NCBI 1000 Genomes Browser:
rs2137082609
Molecular consequence:
  • NM_001376301.1:c.191-4987T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128620.2:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376268.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376269.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376270.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376271.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376272.1:c.349T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376273.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376274.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376275.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376276.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376277.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376278.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376279.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376280.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376281.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376282.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376283.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376284.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376285.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376286.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376287.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376288.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376289.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376290.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376291.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376292.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376293.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376294.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376295.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376302.1:c.34T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376303.1:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376304.1:c.34T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376305.1:c.34T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002576.5:c.328T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164797.1:n.544T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164798.1:n.547T>A - 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
SCV002026362Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 1, 2019) 		de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, Holzer M, Lemke J, Miller CE, Rey LK, Wolf NI, Weiss MM, Waisfisz Q, Mirzaa GM, Wieczorek D, Sticht H, Abou Jamra R.

Brain. 2019 Nov 1;142(11):3351-3359. doi: 10.1093/brain/awz264.

PubMed [citation]
PMID:
31504246
PMCID:
PMC6821231

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 Human Genetics, University of Leipzig Medical Center, SCV002026362.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023