rs2272238
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001278464.2(DNM1L):c.291G>A(p.Gly97=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.139 in 1,600,610 control chromosomes in the GnomAD database, including 16,194 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001278464.2 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNM1L | NM_001278464.2 | c.291G>A | p.Gly97= | splice_region_variant, synonymous_variant | 4/21 | ENST00000553257.6 | |
DNM1L | NM_012062.5 | c.252G>A | p.Gly84= | splice_region_variant, synonymous_variant | 3/20 | ENST00000549701.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNM1L | ENST00000553257.6 | c.291G>A | p.Gly97= | splice_region_variant, synonymous_variant | 4/21 | 2 | NM_001278464.2 | ||
DNM1L | ENST00000549701.6 | c.252G>A | p.Gly84= | splice_region_variant, synonymous_variant | 3/20 | 1 | NM_012062.5 |
Frequencies
GnomAD3 genomes ? AF: 0.154 AC: 23369AN: 151682Hom.: 1890 Cov.: 32
GnomAD3 exomes AF: 0.127 AC: 31378AN: 246126Hom.: 2179 AF XY: 0.130 AC XY: 17252AN XY: 132954
GnomAD4 exome AF: 0.137 AC: 198650AN: 1448810Hom.: 14295 Cov.: 29 AF XY: 0.138 AC XY: 99136AN XY: 720482
GnomAD4 genome ? AF: 0.154 AC: 23394AN: 151800Hom.: 1899 Cov.: 32 AF XY: 0.152 AC XY: 11243AN XY: 74120
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Benign, no assertion criteria provided | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | Feb 22, 2016 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 03, 2015 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
Optic atrophy 5 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at