chr12-120462123-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003769.3(SRSF9):c.562A>G(p.Thr188Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003769.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRSF9 | NM_003769.3 | c.562A>G | p.Thr188Ala | missense_variant | 4/4 | ENST00000229390.8 | |
GATC | NM_176818.3 | c.*2164T>C | 3_prime_UTR_variant | 4/4 | ENST00000551765.6 | ||
GATC | NR_033684.2 | n.2710T>C | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRSF9 | ENST00000229390.8 | c.562A>G | p.Thr188Ala | missense_variant | 4/4 | 1 | NM_003769.3 | P3 | |
GATC | ENST00000551765.6 | c.*2164T>C | 3_prime_UTR_variant | 4/4 | 1 | NM_176818.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.