8-93734146-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001377960.1(RBM12B):āc.2265C>Gā(p.Phe755Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000122 in 1,561,794 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001377960.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM12B | NM_001377960.1 | c.2265C>G | p.Phe755Leu | missense_variant | Exon 4 of 4 | ENST00000520560.6 | NP_001364889.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000265 AC: 4AN: 151084Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000148 AC: 3AN: 202330Hom.: 0 AF XY: 0.0000183 AC XY: 2AN XY: 109058
GnomAD4 exome AF: 0.00000851 AC: 12AN: 1410590Hom.: 0 Cov.: 33 AF XY: 0.00000861 AC XY: 6AN XY: 697054
GnomAD4 genome AF: 0.0000463 AC: 7AN: 151204Hom.: 0 Cov.: 31 AF XY: 0.0000271 AC XY: 2AN XY: 73866
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2265C>G (p.F755L) alteration is located in exon 3 (coding exon 1) of the RBM12B gene. This alteration results from a C to G substitution at nucleotide position 2265, causing the phenylalanine (F) at amino acid position 755 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