17-76736877-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM5PP5_ModerateBS2_Supporting
The NM_001195427.2(SRSF2):āc.284C>Gā(p.Pro95Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000391 in 1,610,928 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely pathogenic (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P95L) has been classified as Pathogenic.
Frequency
Consequence
NM_001195427.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRSF2 | NM_001195427.2 | c.284C>G | p.Pro95Arg | missense_variant | 1/3 | ENST00000359995.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRSF2 | ENST00000359995.10 | c.284C>G | p.Pro95Arg | missense_variant | 1/3 | 1 | NM_001195427.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152068Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000292 AC: 7AN: 239480Hom.: 0 AF XY: 0.0000455 AC XY: 6AN XY: 131866
GnomAD4 exome AF: 0.0000350 AC: 51AN: 1458860Hom.: 0 Cov.: 31 AF XY: 0.0000551 AC XY: 40AN XY: 725596
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152068Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74264
ClinVar
Submissions by phenotype
Acute megakaryoblastic leukemia in down syndrome Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | Sep 01, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at