rs774300457
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080463.2(DYNC2H1):āc.3372C>Gā(p.Ile1124Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000317 in 1,579,338 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. I1124I) has been classified as Likely benign.
Frequency
Consequence
NM_001080463.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYNC2H1 | NM_001080463.2 | c.3372C>G | p.Ile1124Met | missense_variant | 23/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.3372C>G | p.Ile1124Met | missense_variant | 23/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.3372C>G | p.Ile1124Met | missense_variant | 23/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.3372C>G | p.Ile1124Met | missense_variant | 23/89 | 1 | NM_001377.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152018Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000501 AC: 1AN: 199444Hom.: 0 AF XY: 0.00000936 AC XY: 1AN XY: 106804
GnomAD4 exome AF: 0.00000280 AC: 4AN: 1427204Hom.: 0 Cov.: 31 AF XY: 0.00000142 AC XY: 1AN XY: 706580
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at