17-40022434-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014815.4(MED24):c.2483C>T(p.Ala828Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000683 in 1,610,426 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014815.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000830 AC: 2AN: 240970Hom.: 0 AF XY: 0.00000766 AC XY: 1AN XY: 130532
GnomAD4 exome AF: 0.00000549 AC: 8AN: 1458258Hom.: 0 Cov.: 34 AF XY: 0.00000690 AC XY: 5AN XY: 725120
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2483C>T (p.A828V) alteration is located in exon 22 (coding exon 21) of the MED24 gene. This alteration results from a C to T substitution at nucleotide position 2483, causing the alanine (A) at amino acid position 828 to be replaced by a valine (V). 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