rs9332121
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000771.4(CYP2C9):c.332-10T>A variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00775 in 1,613,566 control chromosomes in the GnomAD database, including 895 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000771.4 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP2C9 | NM_000771.4 | c.332-10T>A | splice_polypyrimidine_tract_variant, intron_variant | ENST00000260682.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP2C9 | ENST00000260682.8 | c.332-10T>A | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000771.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0412 AC: 6263AN: 152126Hom.: 444 Cov.: 32
GnomAD3 exomes AF: 0.0107 AC: 2686AN: 251142Hom.: 217 AF XY: 0.00792 AC XY: 1075AN XY: 135714
GnomAD4 exome AF: 0.00426 AC: 6229AN: 1461322Hom.: 450 Cov.: 33 AF XY: 0.00365 AC XY: 2652AN XY: 726964
GnomAD4 genome ? AF: 0.0412 AC: 6272AN: 152244Hom.: 445 Cov.: 32 AF XY: 0.0393 AC XY: 2924AN XY: 74448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at