rs688906
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001080463.2(DYNC2H1):c.4238A>C(p.Lys1413Thr) variant causes a missense change. 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. K1413R) has been classified as Benign.
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.4238A>C | p.Lys1413Thr | missense_variant | 27/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.4238A>C | p.Lys1413Thr | missense_variant | 27/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.4238A>C | p.Lys1413Thr | missense_variant | 27/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.4238A>C | p.Lys1413Thr | missense_variant | 27/89 | 1 | NM_001377.3 | P3 | |
DYNC2H1 | ENST00000334267.11 | c.2205+24368A>C | intron_variant | 1 | |||||
DYNC2H1 | ENST00000649323.1 | c.*1783A>C | 3_prime_UTR_variant, NMD_transcript_variant | 25/51 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at