rs8035733
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001395430.1(PAK6):c.-117-2439A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.155 in 152,296 control chromosomes in the GnomAD database, including 2,175 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.16 ( 2174 hom., cov: 33)
Exomes 𝑓: 0.18 ( 1 hom. )
Consequence
PAK6
NM_001395430.1 intron
NM_001395430.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.256
Genes affected
PAK6 (HGNC:16061): (p21 (RAC1) activated kinase 6) This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.242 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PAK6 | NM_001395430.1 | c.-117-2439A>G | intron_variant | ENST00000560346.6 | |||
BUB1B-PAK6 | NM_001128628.3 | c.-117-2439A>G | intron_variant | ||||
PAK6-AS1 | NR_168270.1 | n.2103T>C | non_coding_transcript_exon_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PAK6 | ENST00000560346.6 | c.-117-2439A>G | intron_variant | 5 | NM_001395430.1 | P1 | |||
PAK6-AS1 | ENST00000623360.1 | n.2054T>C | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.156 AC: 23672AN: 152144Hom.: 2177 Cov.: 33
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GnomAD4 exome AF: 0.176 AC: 6AN: 34Hom.: 1 Cov.: 0 AF XY: 0.300 AC XY: 3AN XY: 10
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GnomAD4 genome ? AF: 0.155 AC: 23656AN: 152262Hom.: 2174 Cov.: 33 AF XY: 0.157 AC XY: 11669AN XY: 74450
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at