10-110885317-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014456.5(PDCD4):c.506C>A(p.Thr169Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000876 in 1,598,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014456.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PDCD4 | NM_014456.5 | c.506C>A | p.Thr169Lys | missense_variant | Exon 5 of 12 | ENST00000280154.12 | NP_055271.2 | |
PDCD4 | NM_145341.4 | c.473C>A | p.Thr158Lys | missense_variant | Exon 6 of 13 | NP_663314.1 | ||
PDCD4 | NM_001199492.2 | c.464C>A | p.Thr155Lys | missense_variant | Exon 5 of 12 | NP_001186421.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152112Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000899 AC: 13AN: 1446778Hom.: 0 Cov.: 25 AF XY: 0.00000555 AC XY: 4AN XY: 720542
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.506C>A (p.T169K) alteration is located in exon 5 (coding exon 4) of the PDCD4 gene. This alteration results from a C to A substitution at nucleotide position 506, causing the threonine (T) at amino acid position 169 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at