21-41801353-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001040424.3(PRDM15):c.3313G>A(p.Ala1105Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000275 in 1,452,604 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_001040424.3 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 Cov.: 33
GnomAD3 exomes AF: 0.00000811 AC: 2AN: 246684Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133008
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1452604Hom.: 0 Cov.: 67 AF XY: 0.00000555 AC XY: 4AN XY: 721032
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4411G>A (p.A1471T) alteration is located in exon 31 (coding exon 31) of the PRDM15 gene. This alteration results from a G to A substitution at nucleotide position 4411, causing the alanine (A) at amino acid position 1471 to be replaced by a threonine (T). 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