chr3-32530496-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016141.4(DYNC1LI1):c.1105G>A(p.Ala369Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016141.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DYNC1LI1 | NM_016141.4 | c.1105G>A | p.Ala369Thr | missense_variant | Exon 9 of 13 | ENST00000273130.9 | NP_057225.2 | |
DYNC1LI1 | NM_001329135.2 | c.757G>A | p.Ala253Thr | missense_variant | Exon 7 of 11 | NP_001316064.1 | ||
DYNC1LI1 | XM_047448246.1 | c.667G>A | p.Ala223Thr | missense_variant | Exon 8 of 12 | XP_047304202.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DYNC1LI1 | ENST00000273130.9 | c.1105G>A | p.Ala369Thr | missense_variant | Exon 9 of 13 | 1 | NM_016141.4 | ENSP00000273130.4 | ||
DYNC1LI1 | ENST00000432458.6 | c.757G>A | p.Ala253Thr | missense_variant | Exon 7 of 11 | 2 | ENSP00000407279.2 | |||
DYNC1LI1 | ENST00000472985.1 | n.535G>A | non_coding_transcript_exon_variant | Exon 4 of 6 | 3 | |||||
DYNC1LI1 | ENST00000481915.5 | n.3493G>A | non_coding_transcript_exon_variant | Exon 8 of 11 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1105G>A (p.A369T) alteration is located in exon 9 (coding exon 9) of the DYNC1LI1 gene. This alteration results from a G to A substitution at nucleotide position 1105, causing the alanine (A) at amino acid position 369 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.