7-155678615-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_053043.3(RBM33):c.179C>T(p.Ser60Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000199 in 1,555,454 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_053043.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM33 | ENST00000401878.8 | c.179C>T | p.Ser60Leu | missense_variant | Exon 4 of 18 | 5 | NM_053043.3 | ENSP00000384160.3 | ||
RBM33 | ENST00000392759.7 | c.179C>T | p.Ser60Leu | missense_variant | Exon 4 of 7 | 5 | ENSP00000376513.3 | |||
RBM33 | ENST00000287912.7 | c.179C>T | p.Ser60Leu | missense_variant | Exon 4 of 6 | 2 | ENSP00000287912.3 | |||
RBM33 | ENST00000307403.6 | n.44C>T | non_coding_transcript_exon_variant | Exon 2 of 12 | 2 | ENSP00000303878.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152016Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000207 AC: 29AN: 1403438Hom.: 0 Cov.: 25 AF XY: 0.0000215 AC XY: 15AN XY: 696612
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152016Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74240
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.179C>T (p.S60L) alteration is located in exon 4 (coding exon 4) of the RBM33 gene. This alteration results from a C to T substitution at nucleotide position 179, causing the serine (S) at amino acid position 60 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