rs2294125
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_152272.5(CHMP7):c.1121-14T>C 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 0.429 in 1,607,370 control chromosomes in the GnomAD database, including 157,041 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_152272.5 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 |
---|---|---|---|---|---|---|---|
CHMP7 | NM_152272.5 | c.1121-14T>C | splice_polypyrimidine_tract_variant, intron_variant | ENST00000397677.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHMP7 | ENST00000397677.6 | c.1121-14T>C | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_152272.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.345 AC: 52363AN: 151978Hom.: 11224 Cov.: 32
GnomAD3 exomes AF: 0.405 AC: 101508AN: 250754Hom.: 23242 AF XY: 0.415 AC XY: 56282AN XY: 135570
GnomAD4 exome AF: 0.437 AC: 636428AN: 1455274Hom.: 145816 Cov.: 30 AF XY: 0.440 AC XY: 319077AN XY: 724364
GnomAD4 genome ? AF: 0.344 AC: 52363AN: 152096Hom.: 11225 Cov.: 32 AF XY: 0.344 AC XY: 25582AN XY: 74318
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at