NM_002576.5(PAK1):c.969G>T (p.Lys323Asn) AND Intellectual developmental disorder with macrocephaly, seizures, and speech delay

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 2020
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:: RCV003134741.3

Allele description [Variation Report for NM_002576.5(PAK1):c.969G>T (p.Lys323Asn)]

NM_002576.5(PAK1):c.969G>T (p.Lys323Asn)

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.969G>T (p.Lys323Asn)

HGVS:

NC_000011.10:g.77343848C>A
NG_029900.2:g.135216G>T
NG_029900.3:g.191161G>T
NM_001128620.2:c.969G>T
NM_001376268.1:c.969G>T
NM_001376269.1:c.969G>T
NM_001376270.1:c.969G>T
NM_001376271.1:c.969G>T
NM_001376272.1:c.990G>T
NM_001376273.1:c.969G>T
NM_001376274.1:c.969G>T
NM_001376275.1:c.969G>T
NM_001376276.1:c.969G>T
NM_001376277.1:c.969G>T
NM_001376278.1:c.969G>T
NM_001376279.1:c.969G>T
NM_001376280.1:c.969G>T
NM_001376281.1:c.969G>T
NM_001376282.1:c.969G>T
NM_001376283.1:c.969G>T
NM_001376284.1:c.969G>T
NM_001376285.1:c.969G>T
NM_001376286.1:c.969G>T
NM_001376287.1:c.969G>T
NM_001376288.1:c.969G>T
NM_001376289.1:c.969G>T
NM_001376290.1:c.969G>T
NM_001376291.1:c.969G>T
NM_001376292.1:c.969G>T
NM_001376293.1:c.969G>T
NM_001376294.1:c.960G>T
NM_001376295.1:c.822-3085G>T
NM_001376301.1:c.720G>T
NM_001376302.1:c.675G>T
NM_001376303.1:c.681G>T
NM_001376304.1:c.675G>T
NM_001376305.1:c.675G>T
NM_002576.5:c.969G>TMANE SELECT
NP_001122092.1:p.Lys323Asn
NP_001363197.1:p.Lys323Asn
NP_001363198.1:p.Lys323Asn
NP_001363199.1:p.Lys323Asn
NP_001363200.1:p.Lys323Asn
NP_001363201.1:p.Lys330Asn
NP_001363202.1:p.Lys323Asn
NP_001363203.1:p.Lys323Asn
NP_001363204.1:p.Lys323Asn
NP_001363205.1:p.Lys323Asn
NP_001363206.1:p.Lys323Asn
NP_001363207.1:p.Lys323Asn
NP_001363208.1:p.Lys323Asn
NP_001363209.1:p.Lys323Asn
NP_001363210.1:p.Lys323Asn
NP_001363211.1:p.Lys323Asn
NP_001363212.1:p.Lys323Asn
NP_001363213.1:p.Lys323Asn
NP_001363214.1:p.Lys323Asn
NP_001363215.1:p.Lys323Asn
NP_001363216.1:p.Lys323Asn
NP_001363217.1:p.Lys323Asn
NP_001363218.1:p.Lys323Asn
NP_001363219.1:p.Lys323Asn
NP_001363220.1:p.Lys323Asn
NP_001363221.1:p.Lys323Asn
NP_001363222.1:p.Lys323Asn
NP_001363223.1:p.Lys320Asn
NP_001363230.1:p.Lys240Asn
NP_001363231.1:p.Lys225Asn
NP_001363232.1:p.Lys227Asn
NP_001363233.1:p.Lys225Asn
NP_001363234.1:p.Lys225Asn
NP_002567.3:p.Lys323Asn
NC_000011.9:g.77054893C>A
NM_001128620.1:c.969G>T
NR_164797.1:n.1185G>T
NR_164798.1:n.1188G>T

Protein change:

K225N

Molecular consequence:

NM_001376295.1:c.822-3085G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001128620.2:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376268.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376269.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376270.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376271.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376272.1:c.990G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376273.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376274.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376275.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376276.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376277.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376278.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376279.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376280.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376281.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376282.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376283.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376284.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376285.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376286.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376287.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376288.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376289.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376290.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376291.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376292.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376293.1:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376294.1:c.960G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376301.1:c.720G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376302.1:c.675G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376303.1:c.681G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376304.1:c.675G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376305.1:c.675G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002576.5:c.969G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_164797.1:n.1185G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164798.1:n.1188G>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003816618	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 22, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003816618

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 22, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Revvity Omics, Revvity, SCV003816618.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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