3-36718013-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001394672.2(DCLK3):c.2257G>T(p.Asp753Tyr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394672.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DCLK3 | NM_001394672.2 | c.2257G>T | p.Asp753Tyr | missense_variant | Exon 4 of 5 | ENST00000636136.2 | NP_001381601.1 | |
DCLK3 | NM_033403.1 | c.1750G>T | p.Asp584Tyr | missense_variant | Exon 4 of 5 | NP_208382.1 | ||
DCLK3 | XM_047449090.1 | c.2093-2492G>T | intron_variant | Intron 3 of 3 | XP_047305046.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DCLK3 | ENST00000636136.2 | c.2257G>T | p.Asp753Tyr | missense_variant | Exon 4 of 5 | 5 | NM_001394672.2 | ENSP00000489900.1 | ||
DCLK3 | ENST00000416516.2 | c.1750G>T | p.Asp584Tyr | missense_variant | Exon 4 of 5 | 5 | ENSP00000394484.2 | |||
DCLK3 | ENST00000498047.1 | n.*80G>T | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1750G>T (p.D584Y) alteration is located in exon 4 (coding exon 3) of the DCLK3 gene. This alteration results from a G to T substitution at nucleotide position 1750, causing the aspartic acid (D) at amino acid position 584 to be replaced by a tyrosine (Y). 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.