rs186762327
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PP2PP3BP4_ModerateBP6_ModerateBS1
The ENST00000355667.11(DNM2):c.1286A>T(p.Asp429Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000128 in 1,614,148 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D429N) has been classified as Likely benign.
Frequency
Consequence
ENST00000355667.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNM2 | NM_001005361.3 | c.1196+711A>T | intron_variant | ENST00000389253.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNM2 | ENST00000389253.9 | c.1196+711A>T | intron_variant | 5 | NM_001005361.3 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000660 AC: 166AN: 251486Hom.: 1 AF XY: 0.000486 AC XY: 66AN XY: 135918
GnomAD4 exome AF: 0.000129 AC: 189AN: 1461854Hom.: 2 Cov.: 31 AF XY: 0.0000990 AC XY: 72AN XY: 727226
GnomAD4 genome ? AF: 0.000112 AC: 17AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74464
ClinVar
Submissions by phenotype
Charcot-Marie-Tooth disease dominant intermediate B Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 17, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at