chr12-19130115-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001256470.2(PLEKHA5):c.154C>T(p.Arg52Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000167 in 1,579,008 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001256470.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000165 AC: 25AN: 151886Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000163 AC: 31AN: 190538Hom.: 0 AF XY: 0.000154 AC XY: 16AN XY: 103790
GnomAD4 exome AF: 0.000167 AC: 239AN: 1427122Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 105AN XY: 707444
GnomAD4 genome AF: 0.000165 AC: 25AN: 151886Hom.: 0 Cov.: 30 AF XY: 0.000175 AC XY: 13AN XY: 74154
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.154C>T (p.R52W) alteration is located in exon 2 (coding exon 2) of the PLEKHA5 gene. This alteration results from a C to T substitution at nucleotide position 154, causing the arginine (R) at amino acid position 52 to be replaced by a tryptophan (W). 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