chr19-35633112-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024321.5(RBM42):c.544C>A(p.Pro182Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,458,722 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024321.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250294Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135544
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458722Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725832
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.544C>A (p.P182T) alteration is located in exon 6 (coding exon 6) of the RBM42 gene. This alteration results from a C to A substitution at nucleotide position 544, causing the proline (P) at amino acid position 182 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