21-43094667-T-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM5PP2PP3
The NM_006758.3(U2AF1):c.470A>T(p.Gln157Leu) variant causes a missense change. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q157R) has been classified as Likely pathogenic.
Frequency
Consequence
NM_006758.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
U2AF1 | NM_006758.3 | c.470A>T | p.Gln157Leu | missense_variant | 6/8 | ENST00000291552.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
U2AF1 | ENST00000291552.9 | c.470A>T | p.Gln157Leu | missense_variant | 6/8 | 1 | NM_006758.3 | P3 |
Frequencies
GnomAD3 genomes ? Cov.: 8
GnomAD4 exome Cov.: 5
GnomAD4 genome ? Cov.: 8
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.