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NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) AND Intellectual disability, X-linked 30

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 15, 2007
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:
RCV000012327.25

Allele description [Variation Report for NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser)]

NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser)

Gene:
PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser)
HGVS:
  • NC_000023.11:g.111196570G>C
  • NG_008288.2:g.257286G>C
  • NM_001128166.3:c.1337G>C
  • NM_001128167.3:c.1337G>C
  • NM_001128168.3:c.1445G>C
  • NM_001128172.2:c.1400G>C
  • NM_001128173.3:c.1382G>C
  • NM_001324325.2:c.1337G>C
  • NM_001324326.2:c.1337G>C
  • NM_001324327.2:c.1382G>C
  • NM_001324328.2:c.1382G>C
  • NM_001324329.2:c.1382G>C
  • NM_001324330.2:c.1337G>C
  • NM_001324331.2:c.1337G>C
  • NM_001324332.2:c.1337G>C
  • NM_001324333.2:c.1382G>C
  • NM_001324334.2:c.1337G>C
  • NM_002578.5:c.1337G>CMANE SELECT
  • NP_001121638.1:p.Trp446Ser
  • NP_001121639.1:p.Trp446Ser
  • NP_001121640.1:p.Trp482Ser
  • NP_001121644.1:p.Trp467Ser
  • NP_001121645.1:p.Trp461Ser
  • NP_001311254.1:p.Trp446Ser
  • NP_001311255.1:p.Trp446Ser
  • NP_001311256.1:p.Trp461Ser
  • NP_001311257.1:p.Trp461Ser
  • NP_001311258.1:p.Trp461Ser
  • NP_001311259.1:p.Trp446Ser
  • NP_001311260.1:p.Trp446Ser
  • NP_001311261.1:p.Trp446Ser
  • NP_001311262.1:p.Trp461Ser
  • NP_001311263.1:p.Trp446Ser
  • NP_002569.1:p.Trp446Ser
  • NC_000023.10:g.110439798G>C
  • NR_136747.2:n.1766G>C
  • NR_136748.1:n.1512G>C
Protein change:
W446S; TRP446SER
Links:
OMIM: 300142.0004; dbSNP: rs121434614
NCBI 1000 Genomes Browser:
rs121434614
Molecular consequence:
  • NM_001128166.3:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128167.3:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128168.3:c.1445G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128172.2:c.1400G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128173.3:c.1382G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324325.2:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324326.2:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324327.2:c.1382G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324328.2:c.1382G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324329.2:c.1382G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324330.2:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324331.2:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324332.2:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324333.2:c.1382G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324334.2:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002578.5:c.1337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136747.2:n.1766G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136748.1:n.1512G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intellectual disability, X-linked 30 (XLID30)
Synonyms:
MENTAL RETARDATION, X-LINKED 47; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30
Identifiers:
MONDO: MONDO:0010361; MedGen: C0796237; Orphanet: 777; OMIM: 300558

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032561OMIM
no assertion criteria provided
Pathogenic
(Oct 15, 2007) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

PAK3 related mental disability: further characterization of the phenotype.

Peippo M, Koivisto AM, Särkämö T, Sipponen M, von Koskull H, Ylisaukko-oja T, Rehnström K, Froyen G, Ignatius J, Järvelä I.

Am J Med Genet A. 2007 Oct 15;143A(20):2406-16.

PubMed [citation]
PMID:
17853471

Details of each submission

From OMIM, SCV000032561.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 5 males with intellectual developmental disorder-30 (XLID30; 300558) in a Finnish family, Peippo et al. (2007) identified a 1337G-C transversion in exon 7 of the PAK3 gene, resulting in a trp446-to-ser (W446S) substitution. Each mother of an affected male was found to be a carrier of the mutation. Peippo et al. (2007) examined X inactivation in carrier females by the methylation status of the polymorphic AR locus (313700). Skewed X inactivation was identified in 2 phenotypically normal females (90%:10%; 91%:9%) as well as in a borderline retarded female (100%:0%). The mutation was not found in 2 male relatives or in 200 unrelated Finnish controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023