Variant 11-77332353-G-GGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGTGGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAAGGGGAGAGGGGAGGGGGGAGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGTAGGAGGAGGGGAAGGAAGGGAAGGATTGGAGGGGAAGCGAA details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_002576.5(PAK1):c.1551+376_1551+377insTTCGCTTCCCCTCCAATCCTTCCCTTCCTTCCCCTCCTCCTACCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCCTCCCCTCTCCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCACCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCC variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (no stars).

Frequency

Genomes: not found (cov: 0)

Consequence

PAK1
NM_002576.5 intron

Scores

Not classified

Clinical Significance

Uncertain significance no assertion criteria provided U:1

Conservation

PhyloP100: -1.20

Variant links:

Genes affected

PAK1 (HGNC:8590): (p21 (RAC1) activated kinase 1) This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]

PAK1 links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PAK1	NM_002576.5 linkuse as main transcript	c.1551+376_1551+377insTTCGCTTCCCCTCCAATCCTTCCCTTCCTTCCCCTCCTCCTACCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCCTCCCCTCTCCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCACCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCC		intron_variant		ENST00000356341.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PAK1	ENST00000356341.8 linkuse as main transcript	c.1551+376_1551+377insTTCGCTTCCCCTCCAATCCTTCCCTTCCTTCCCCTCCTCCTACCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCCTCCCCTCTCCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCACCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCC		intron_variant		1	NM_002576.5	P1	Q13153-1

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: no assertion criteria provided

LINK: link

Submissions by phenotype

Schizophrenia

Uncertain:1

Uncertain significance, no assertion criteria provided

case-control

Department of Psychiatry, The University of Hong Kong

Nov 11, 2022

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Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.