8-93733492-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001377960.1(RBM12B):c.2919G>A(p.Met973Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000131 in 1,608,090 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_001377960.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM12B | NM_001377960.1 | c.2919G>A | p.Met973Ile | missense_variant | Exon 4 of 4 | ENST00000520560.6 | NP_001364889.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152198Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000124 AC: 18AN: 1455892Hom.: 0 Cov.: 32 AF XY: 0.0000152 AC XY: 11AN XY: 723548
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2919G>A (p.M973I) alteration is located in exon 3 (coding exon 1) of the RBM12B gene. This alteration results from a G to A substitution at nucleotide position 2919, causing the methionine (M) at amino acid position 973 to be replaced by an isoleucine (I). 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