16-2557829-A-G
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Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_002613.5(PDPK1):āc.151A>Gā(p.Met51Val) variant causes a missense change. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Genomes: š 0.00017 ( 0 hom., cov: 24)
Exomes š: 0.000022 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
PDPK1
NM_002613.5 missense
NM_002613.5 missense
Scores
1
1
16
Clinical Significance
Conservation
PhyloP100: 7.10
Genes affected
PDPK1 (HGNC:8816): (3-phosphoinositide dependent protein kinase 1) Enables 3-phosphoinositide-dependent protein kinase activity; phospholipase activator activity; and phospholipase binding activity. Involved in several processes, including cell surface receptor signaling pathway; regulation of protein kinase activity; and regulation of signal transduction. Acts upstream of or within intracellular signal transduction. Located in cell projection; cytosol; and plasma membrane. Implicated in prostate cancer. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.24617645).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDPK1 | NM_002613.5 | c.151A>G | p.Met51Val | missense_variant | 2/14 | ENST00000342085.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDPK1 | ENST00000342085.9 | c.151A>G | p.Met51Val | missense_variant | 2/14 | 1 | NM_002613.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 25AN: 147798Hom.: 0 Cov.: 24 FAILED QC
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000223 AC: 29AN: 1303058Hom.: 0 Cov.: 21 AF XY: 0.0000214 AC XY: 14AN XY: 654494
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GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000169 AC: 25AN: 147904Hom.: 0 Cov.: 24 AF XY: 0.000167 AC XY: 12AN XY: 71912
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 14, 2021 | The c.151A>G (p.M51V) alteration is located in exon 2 (coding exon 2) of the PDPK1 gene. This alteration results from a A to G substitution at nucleotide position 151, causing the methionine (M) at amino acid position 51 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
DEOGEN2
Benign
T;.;.;T;.
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Pathogenic
D
LIST_S2
Benign
T;T;T;T;T
M_CAP
Benign
T
MetaRNN
Benign
T;T;T;T;T
MetaSVM
Benign
T
MutationTaster
Benign
D;D;D;D;N
PrimateAI
Uncertain
T
PROVEAN
Benign
N;N;N;N;N
REVEL
Benign
Sift
Benign
T;T;D;T;T
Sift4G
Benign
T;T;T;T;T
Polyphen
B;.;B;.;.
Vest4
MutPred
Gain of glycosylation at T54 (P = 0.1706);Gain of glycosylation at T54 (P = 0.1706);Gain of glycosylation at T54 (P = 0.1706);.;.;
MVP
MPC
ClinPred
T
GERP RS
Varity_R
gMVP
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