rs137853032
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001080463.2(DYNC2H1):c.8512C>A(p.Arg2838=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000224 in 1,337,590 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001080463.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYNC2H1 | NM_001080463.2 | c.8512C>A | p.Arg2838= | synonymous_variant | 53/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.8512C>A | p.Arg2838= | synonymous_variant | 53/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.8512C>A | p.Arg2838= | synonymous_variant | 53/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.8512C>A | p.Arg2838= | synonymous_variant | 53/89 | 1 | NM_001377.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 150870Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.00000224 AC: 3AN: 1337590Hom.: 0 Cov.: 27 AF XY: 0.00000304 AC XY: 2AN XY: 658404
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 150870Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73570
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at