chr21-44406579-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003307.4(TRPM2):c.2791-15C>G 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 0.00000749 in 1,602,774 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.
Frequency
Consequence
NM_003307.4 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPM2 | NM_003307.4 | c.2791-15C>G | splice_polypyrimidine_tract_variant, intron_variant | ENST00000397928.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPM2 | ENST00000397928.6 | c.2791-15C>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_003307.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 151812Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000169 AC: 4AN: 237226Hom.: 0 AF XY: 0.0000155 AC XY: 2AN XY: 129352
GnomAD4 exome AF: 0.00000551 AC: 8AN: 1450844Hom.: 0 Cov.: 50 AF XY: 0.00000693 AC XY: 5AN XY: 721724
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 151930Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at