19-18922377-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019070.5(DDX49):c.499G>A(p.Val167Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000685 in 1,459,444 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_019070.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DDX49 | NM_019070.5 | c.499G>A | p.Val167Met | missense_variant | 5/13 | ENST00000247003.9 | NP_061943.2 | |
DDX49 | XM_011528084.4 | c.178G>A | p.Val60Met | missense_variant | 6/14 | XP_011526386.1 | ||
DDX49 | NR_033677.2 | n.455G>A | non_coding_transcript_exon_variant | 5/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DDX49 | ENST00000247003.9 | c.499G>A | p.Val167Met | missense_variant | 5/13 | 1 | NM_019070.5 | ENSP00000247003.3 | ||
ENSG00000268193 | ENST00000596918.5 | n.*167+8948C>T | intron_variant | 5 | ENSP00000469669.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000824 AC: 2AN: 242810Hom.: 0 AF XY: 0.00000756 AC XY: 1AN XY: 132310
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1459444Hom.: 0 Cov.: 33 AF XY: 0.00000826 AC XY: 6AN XY: 726002
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2023 | The c.499G>A (p.V167M) alteration is located in exon 5 (coding exon 5) of the DDX49 gene. This alteration results from a G to A substitution at nucleotide position 499, causing the valine (V) at amino acid position 167 to be replaced by a methionine (M). 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