chr9-127935791-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003863.4(DPM2):c.197-11G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,808 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_003863.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DPM2 | NM_003863.4 | c.197-11G>A | intron_variant | Intron 3 of 3 | ENST00000314392.13 | NP_003854.1 | ||
DPM2 | NM_001378437.1 | c.107-11G>A | intron_variant | Intron 2 of 2 | NP_001365366.1 | |||
DPM2 | NR_165631.1 | n.354-11G>A | intron_variant | Intron 3 of 3 | ||||
DPM2 | NR_165632.1 | n.38-11G>A | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460808Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726734
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.