19-18921694-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019070.5(DDX49):c.271C>T(p.Arg91Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000489 in 1,613,978 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019070.5 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 |
---|---|---|---|---|---|---|---|---|
DDX49 | NM_019070.5 | c.271C>T | p.Arg91Trp | missense_variant | Exon 3 of 13 | ENST00000247003.9 | NP_061943.2 | |
DDX49 | XM_011528084.4 | c.-51C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 4 of 14 | XP_011526386.1 | |||
DDX49 | XM_011528084.4 | c.-51C>T | 5_prime_UTR_variant | Exon 4 of 14 | XP_011526386.1 | |||
DDX49 | NR_033677.2 | n.227C>T | non_coding_transcript_exon_variant | Exon 3 of 13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DDX49 | ENST00000247003.9 | c.271C>T | p.Arg91Trp | missense_variant | Exon 3 of 13 | 1 | NM_019070.5 | ENSP00000247003.3 | ||
ENSG00000268193 | ENST00000596918.5 | n.*168-8648G>A | intron_variant | Intron 4 of 6 | 5 | ENSP00000469669.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251420Hom.: 1 AF XY: 0.0000589 AC XY: 8AN XY: 135902
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1461838Hom.: 1 Cov.: 31 AF XY: 0.0000578 AC XY: 42AN XY: 727214
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.271C>T (p.R91W) alteration is located in exon 3 (coding exon 3) of the DDX49 gene. This alteration results from a C to T substitution at nucleotide position 271, causing the arginine (R) at amino acid position 91 to be replaced by a tryptophan (W). 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