chr4-156810904-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_016205.3(PDGFC):c.428G>A(p.Arg143Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000249 in 1,608,552 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016205.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152016Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000261 AC: 38AN: 1456536Hom.: 0 Cov.: 28 AF XY: 0.0000207 AC XY: 15AN XY: 724934
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152016Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74248
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.428G>A (p.R143K) alteration is located in exon 3 (coding exon 3) of the PDGFC gene. This alteration results from a G to A substitution at nucleotide position 428, causing the arginine (R) at amino acid position 143 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