17-76736877-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM5PP5BP4BS2_Supporting
The NM_001195427.2(SRSF2):c.284C>T(p.Pro95Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000509 in 1,610,896 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 Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P95R) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001195427.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRSF2 | NM_001195427.2 | c.284C>T | p.Pro95Leu | missense_variant | 1/3 | ENST00000359995.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRSF2 | ENST00000359995.10 | c.284C>T | p.Pro95Leu | missense_variant | 1/3 | 1 | NM_001195427.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 152068Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000626 AC: 15AN: 239480Hom.: 0 AF XY: 0.0000910 AC XY: 12AN XY: 131866
GnomAD4 exome AF: 0.0000466 AC: 68AN: 1458828Hom.: 0 Cov.: 31 AF XY: 0.0000730 AC XY: 53AN XY: 725590
GnomAD4 genome AF: 0.0000921 AC: 14AN: 152068Hom.: 0 Cov.: 33 AF XY: 0.000135 AC XY: 10AN XY: 74268
ClinVar
Submissions by phenotype
Atypical chronic myeloid leukemia, BCR-ABL1 negative Pathogenic:1
Pathogenic, no assertion criteria provided | clinical testing | Institute of Laboratory Medicine, Hospital Wels-Grieskirchen | Apr 20, 2022 | - - |
Acute myeloid leukemia Pathogenic:1
Pathogenic, no assertion criteria provided | clinical testing | Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center | Jun 08, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at