chr11-103116688-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001080463.2(DYNC2H1):c.740G>T(p.Arg247Leu) 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. R247Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080463.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYNC2H1 | NM_001080463.2 | c.740G>T | p.Arg247Leu | missense_variant | 5/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.740G>T | p.Arg247Leu | missense_variant | 5/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.740G>T | p.Arg247Leu | missense_variant | 5/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.740G>T | p.Arg247Leu | missense_variant | 5/89 | 1 | NM_001377.3 | P3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243188Hom.: 0 AF XY: 0.00000757 AC XY: 1AN XY: 132132
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1450750Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 721620
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at