10-68963462-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004728.4(DDX21):c.779C>T(p.Ala260Val) 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. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004728.4 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 |
---|---|---|---|---|---|---|---|---|
DDX21 | NM_004728.4 | c.779C>T | p.Ala260Val | missense_variant | Exon 4 of 15 | ENST00000354185.9 | NP_004719.2 | |
DDX21 | NM_001410932.1 | c.779C>T | p.Ala260Val | missense_variant | Exon 4 of 14 | NP_001397861.1 | ||
DDX21 | NM_001256910.2 | c.575C>T | p.Ala192Val | missense_variant | Exon 4 of 15 | NP_001243839.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000137 AC: 2AN: 1457976Hom.: 1 Cov.: 30 AF XY: 0.00000276 AC XY: 2AN XY: 725412
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.779C>T (p.A260V) alteration is located in exon 4 (coding exon 4) of the DDX21 gene. This alteration results from a C to T substitution at nucleotide position 779, causing the alanine (A) at amino acid position 260 to be replaced by a valine (V). 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.