17-64500552-A-C
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 1P and 12B. PP2BP4_StrongBA1
The NM_004396.5(DDX5):āc.1438T>Gā(p.Ser480Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.059 in 1,612,270 control chromosomes in the GnomAD database, including 3,143 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_004396.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDX5 | NM_004396.5 | c.1438T>G | p.Ser480Ala | missense_variant | 12/13 | ENST00000225792.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDX5 | ENST00000225792.10 | c.1438T>G | p.Ser480Ala | missense_variant | 12/13 | 1 | NM_004396.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0498 AC: 7587AN: 152220Hom.: 264 Cov.: 32
GnomAD3 exomes AF: 0.0540 AC: 13463AN: 249176Hom.: 500 AF XY: 0.0558 AC XY: 7508AN XY: 134616
GnomAD4 exome AF: 0.0599 AC: 87467AN: 1459932Hom.: 2879 Cov.: 31 AF XY: 0.0601 AC XY: 43645AN XY: 726208
GnomAD4 genome AF: 0.0498 AC: 7584AN: 152338Hom.: 264 Cov.: 32 AF XY: 0.0505 AC XY: 3760AN XY: 74482
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at