rs587777095
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The ENST00000372715.7(DYNC2I2):c.982-2A>T variant causes a splice acceptor change. The variant allele was found at a frequency of 0.00000657 in 152,140 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000372715.7 splice_acceptor
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DYNC2I2 | NM_052844.4 | c.982-2A>T | splice_acceptor_variant | ENST00000372715.7 | NP_443076.2 | |||
DYNC2I2 | XM_011519179.3 | c.898-2A>T | splice_acceptor_variant | XP_011517481.1 | ||||
DYNC2I2 | XM_047424057.1 | c.982-2A>T | splice_acceptor_variant | XP_047280013.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DYNC2I2 | ENST00000372715.7 | c.982-2A>T | splice_acceptor_variant | 1 | NM_052844.4 | ENSP00000361800 | P1 | |||
DYNC2I2 | ENST00000483181.1 | n.575-2A>T | splice_acceptor_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at