9-15468635-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033222.5(PSIP1):āc.1415A>Cā(p.Gln472Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,560 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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. Q472L) has been classified as Benign.
Frequency
Consequence
NM_033222.5 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 |
---|---|---|---|---|---|---|---|
PSIP1 | NM_033222.5 | c.1415A>C | p.Gln472Pro | missense_variant | 14/16 | ENST00000380733.9 | |
PSIP1 | NM_001128217.3 | c.1415A>C | p.Gln472Pro | missense_variant | 14/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PSIP1 | ENST00000380733.9 | c.1415A>C | p.Gln472Pro | missense_variant | 14/16 | 1 | NM_033222.5 | P1 | |
PSIP1 | ENST00000380738.8 | c.1415A>C | p.Gln472Pro | missense_variant | 14/16 | 1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251186Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135758
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461560Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727092
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at