NM_001278464.2:c.1223C>G
Variant summary
Our verdict is Likely pathogenic. The variant received 8 ACMG points: 8P and 0B. PM1PM2PM5PP2PP3
The NM_001278464.2(DNM1L):c.1223C>G(p.Ala408Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A408D) has been classified as Pathogenic.
Frequency
Consequence
NM_001278464.2 missense
Scores
Clinical Significance
Conservation
Publications
- myopathy, lactic acidosis, and sideroblastic anemia 2Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae), G2P
- myopathy, lactic acidosis, and sideroblastic anemiaInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_pathogenic. The variant received 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNM1L | NM_001278464.2 | c.1223C>G | p.Ala408Gly | missense_variant | Exon 11 of 21 | ENST00000553257.6 | NP_001265393.1 | |
DNM1L | NM_012062.5 | c.1184C>G | p.Ala395Gly | missense_variant | Exon 10 of 20 | ENST00000549701.6 | NP_036192.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNM1L | ENST00000553257.6 | c.1223C>G | p.Ala408Gly | missense_variant | Exon 11 of 21 | 2 | NM_001278464.2 | ENSP00000449089.1 | ||
DNM1L | ENST00000549701.6 | c.1184C>G | p.Ala395Gly | missense_variant | Exon 10 of 20 | 1 | NM_012062.5 | ENSP00000450399.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at