rs1555052511
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3_ModeratePP5
The NM_001080463.2(DYNC2H1):āc.4418T>Cā(p.Ile1473Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000704 in 1,420,962 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I1473V) 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 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYNC2H1 | NM_001080463.2 | c.4418T>C | p.Ile1473Thr | missense_variant | 29/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.4418T>C | p.Ile1473Thr | missense_variant | 29/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.4418T>C | p.Ile1473Thr | missense_variant | 29/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.4418T>C | p.Ile1473Thr | missense_variant | 29/89 | 1 | NM_001377.3 | P3 | |
DYNC2H1 | ENST00000334267.11 | c.2205+26552T>C | intron_variant | 1 | |||||
DYNC2H1 | ENST00000649323.1 | c.*1963T>C | 3_prime_UTR_variant, NMD_transcript_variant | 27/51 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 7.04e-7 AC: 1AN: 1420962Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 703900
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Jeune thoracic dystrophy Pathogenic:2
Pathogenic, no assertion criteria provided | research | Dan Cohn Lab, University Of California Los Angeles | Jun 01, 2017 | - - |
Likely pathogenic, no assertion criteria provided | research | University of Washington Center for Mendelian Genomics, University of Washington | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at