NM_002576.5(PAK1):c.724C>G (p.Gln242Glu) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 1, 2023
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:: RCV003230307.2

Allele description [Variation Report for NM_002576.5(PAK1):c.724C>G (p.Gln242Glu)]

NM_002576.5(PAK1):c.724C>G (p.Gln242Glu)

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.724C>G (p.Gln242Glu)

HGVS:

NC_000011.10:g.77355716G>C
NG_029900.2:g.123348C>G
NG_029900.3:g.179293C>G
NM_001128620.2:c.724C>G
NM_001376268.1:c.724C>G
NM_001376269.1:c.724C>G
NM_001376270.1:c.724C>G
NM_001376271.1:c.724C>G
NM_001376272.1:c.745C>G
NM_001376273.1:c.724C>G
NM_001376274.1:c.724C>G
NM_001376275.1:c.724C>G
NM_001376276.1:c.724C>G
NM_001376277.1:c.724C>G
NM_001376278.1:c.724C>G
NM_001376279.1:c.724C>G
NM_001376280.1:c.724C>G
NM_001376281.1:c.724C>G
NM_001376282.1:c.724C>G
NM_001376283.1:c.724C>G
NM_001376284.1:c.724C>G
NM_001376285.1:c.724C>G
NM_001376286.1:c.724C>G
NM_001376287.1:c.724C>G
NM_001376288.1:c.724C>G
NM_001376289.1:c.724C>G
NM_001376290.1:c.724C>G
NM_001376291.1:c.724C>G
NM_001376292.1:c.724C>G
NM_001376293.1:c.724C>G
NM_001376294.1:c.724C>G
NM_001376295.1:c.724C>G
NM_001376301.1:c.475C>G
NM_001376302.1:c.430C>G
NM_001376303.1:c.597+3182C>G
NM_001376304.1:c.430C>G
NM_001376305.1:c.430C>G
NM_002576.5:c.724C>GMANE SELECT
NP_001122092.1:p.Gln242Glu
NP_001363197.1:p.Gln242Glu
NP_001363198.1:p.Gln242Glu
NP_001363199.1:p.Gln242Glu
NP_001363200.1:p.Gln242Glu
NP_001363201.1:p.Gln249Glu
NP_001363202.1:p.Gln242Glu
NP_001363203.1:p.Gln242Glu
NP_001363204.1:p.Gln242Glu
NP_001363205.1:p.Gln242Glu
NP_001363206.1:p.Gln242Glu
NP_001363207.1:p.Gln242Glu
NP_001363208.1:p.Gln242Glu
NP_001363209.1:p.Gln242Glu
NP_001363210.1:p.Gln242Glu
NP_001363211.1:p.Gln242Glu
NP_001363212.1:p.Gln242Glu
NP_001363213.1:p.Gln242Glu
NP_001363214.1:p.Gln242Glu
NP_001363215.1:p.Gln242Glu
NP_001363216.1:p.Gln242Glu
NP_001363217.1:p.Gln242Glu
NP_001363218.1:p.Gln242Glu
NP_001363219.1:p.Gln242Glu
NP_001363220.1:p.Gln242Glu
NP_001363221.1:p.Gln242Glu
NP_001363222.1:p.Gln242Glu
NP_001363223.1:p.Gln242Glu
NP_001363224.1:p.Gln242Glu
NP_001363230.1:p.Gln159Glu
NP_001363231.1:p.Gln144Glu
NP_001363233.1:p.Gln144Glu
NP_001363234.1:p.Gln144Glu
NP_002567.3:p.Gln242Glu
NC_000011.9:g.77066761G>C
NR_164797.1:n.940C>G
NR_164798.1:n.943C>G

Protein change:

Q144E

Molecular consequence:

NM_001376303.1:c.597+3182C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001128620.2:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376268.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376269.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376270.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376271.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376272.1:c.745C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376273.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376274.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376275.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376276.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376277.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376278.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376279.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376280.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376281.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376282.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376283.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376284.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376285.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376286.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376287.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376288.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376289.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376290.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376291.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376292.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376293.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376294.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376295.1:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376301.1:c.475C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376302.1:c.430C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376304.1:c.430C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376305.1:c.430C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002576.5:c.724C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164797.1:n.940C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164798.1:n.943C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Mus musculus tryptophan hydroxylase 1 (Tph1), transcript variant 3, mRNA
Mus musculus tryptophan hydroxylase 1 (Tph1), transcript variant 3, mRNA
gi|444909166|ref|NM_001276372.1|

Nucleotide
Mus musculus aconitase 2, mitochondrial, mRNA (cDNA clone MGC:103318 IMAGE:42385...
Mus musculus aconitase 2, mitochondrial, mRNA (cDNA clone MGC:103318 IMAGE:4238599), complete cds
gi|63101586|gb|BC094462.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003928003	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	criteria provided, single submitter (Hauer et al. (Genet Med. 2018))	Likely benign (Jun 1, 2023)	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

SCV003928003

Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

criteria provided, single submitter

(Hauer et al. (Genet Med. 2018))

Likely benign
(Jun 1, 2023)

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	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, et al.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

PubMed [citation]

PMID:: 29758562
PMCID:: PMC5993671

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV003928003.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

This variant has been identified by standard clinical testing. inherited from an unaffected father Selected ACMG criteria: Likely benign (I):BS2;BP4;PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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