8-93734090-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001377960.1(RBM12B):c.2321C>T(p.Pro774Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000173 in 1,562,636 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM12B | NM_001377960.1 | c.2321C>T | p.Pro774Leu | missense_variant | Exon 4 of 4 | ENST00000520560.6 | NP_001364889.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151998Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000451 AC: 9AN: 199396Hom.: 0 AF XY: 0.0000368 AC XY: 4AN XY: 108616
GnomAD4 exome AF: 0.0000177 AC: 25AN: 1410638Hom.: 0 Cov.: 34 AF XY: 0.0000186 AC XY: 13AN XY: 698308
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151998Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74240
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2321C>T (p.P774L) alteration is located in exon 3 (coding exon 1) of the RBM12B gene. This alteration results from a C to T substitution at nucleotide position 2321, causing the proline (P) at amino acid position 774 to be replaced by a leucine (L). 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