rs237057
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_001195427.2(SRSF2):c.144C>T(p.Asp48Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.907 in 1,613,358 control chromosomes in the GnomAD database, including 670,295 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001195427.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRSF2 | NM_001195427.2 | c.144C>T | p.Asp48Asp | synonymous_variant | Exon 1 of 3 | ENST00000359995.10 | NP_001182356.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRSF2 | ENST00000359995.10 | c.144C>T | p.Asp48Asp | synonymous_variant | Exon 1 of 3 | 1 | NM_001195427.2 | ENSP00000353089.5 | ||
ENSG00000267168 | ENST00000587459.1 | c.239-1265G>A | intron_variant | Intron 1 of 1 | 5 | ENSP00000466829.1 |
Frequencies
GnomAD3 genomes AF: 0.809 AC: 123008AN: 152112Hom.: 52437 Cov.: 35
GnomAD3 exomes AF: 0.895 AC: 222037AN: 248222Hom.: 100689 AF XY: 0.903 AC XY: 121849AN XY: 134980
GnomAD4 exome AF: 0.917 AC: 1340100AN: 1461128Hom.: 617853 Cov.: 85 AF XY: 0.919 AC XY: 667668AN XY: 726890
GnomAD4 genome AF: 0.808 AC: 123053AN: 152230Hom.: 52442 Cov.: 35 AF XY: 0.811 AC XY: 60362AN XY: 74438
ClinVar
Submissions by phenotype
SRSF2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at