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NM_002578.5(PAK3):c.1322C>T (p.Pro441Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 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:
RCV003365129.2

Allele description [Variation Report for NM_002578.5(PAK3):c.1322C>T (p.Pro441Leu)]

NM_002578.5(PAK3):c.1322C>T (p.Pro441Leu)

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.1322C>T (p.Pro441Leu)
HGVS:
  • NC_000023.11:g.111196555C>T
  • NG_008288.2:g.257271C>T
  • NM_001128166.3:c.1322C>T
  • NM_001128167.3:c.1322C>T
  • NM_001128168.3:c.1430C>T
  • NM_001128172.2:c.1385C>T
  • NM_001128173.3:c.1367C>T
  • NM_001324325.2:c.1322C>T
  • NM_001324326.2:c.1322C>T
  • NM_001324327.2:c.1367C>T
  • NM_001324328.2:c.1367C>T
  • NM_001324329.2:c.1367C>T
  • NM_001324330.2:c.1322C>T
  • NM_001324331.2:c.1322C>T
  • NM_001324332.2:c.1322C>T
  • NM_001324333.2:c.1367C>T
  • NM_001324334.2:c.1322C>T
  • NM_002578.5:c.1322C>TMANE SELECT
  • NP_001121638.1:p.Pro441Leu
  • NP_001121639.1:p.Pro441Leu
  • NP_001121640.1:p.Pro477Leu
  • NP_001121644.1:p.Pro462Leu
  • NP_001121645.1:p.Pro456Leu
  • NP_001311254.1:p.Pro441Leu
  • NP_001311255.1:p.Pro441Leu
  • NP_001311256.1:p.Pro456Leu
  • NP_001311257.1:p.Pro456Leu
  • NP_001311258.1:p.Pro456Leu
  • NP_001311259.1:p.Pro441Leu
  • NP_001311260.1:p.Pro441Leu
  • NP_001311261.1:p.Pro441Leu
  • NP_001311262.1:p.Pro456Leu
  • NP_001311263.1:p.Pro441Leu
  • NP_002569.1:p.Pro441Leu
  • NC_000023.10:g.110439783C>T
  • NM_002578.3:c.1322C>T
  • NR_136747.2:n.1751C>T
  • NR_136748.1:n.1497C>T
Protein change:
P441L
Molecular consequence:
  • NM_001128166.3:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128167.3:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128168.3:c.1430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128172.2:c.1385C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128173.3:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324325.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324326.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324327.2:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324328.2:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324329.2:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324330.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324331.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324332.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324333.2:c.1367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324334.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002578.5:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136747.2:n.1751C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136748.1:n.1497C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004084162Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 1, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004084162.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1322C>T (p.P441L) alteration is located in exon 16 (coding exon 12) of the PAK3 gene. This alteration results from a C to T substitution at nucleotide position 1322, causing the proline (P) at amino acid position 441 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024