20-49243675-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017895.8(DDX27):āc.2251C>Gā(p.Arg751Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000836 in 1,613,996 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 (ā ).
Frequency
Consequence
NM_017895.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDX27 | NM_017895.8 | c.2251C>G | p.Arg751Gly | missense_variant | 20/21 | ENST00000618172.5 | |
DDX27 | NM_001348187.2 | c.2344C>G | p.Arg782Gly | missense_variant | 21/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDX27 | ENST00000618172.5 | c.2251C>G | p.Arg751Gly | missense_variant | 20/21 | 1 | NM_017895.8 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251452Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135886
GnomAD4 exome AF: 0.0000903 AC: 132AN: 1461882Hom.: 0 Cov.: 32 AF XY: 0.0000921 AC XY: 67AN XY: 727246
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 01, 2023 | The c.2344C>G (p.R782G) alteration is located in exon 20 (coding exon 20) of the DDX27 gene. This alteration results from a C to G substitution at nucleotide position 2344, causing the arginine (R) at amino acid position 782 to be replaced by a glycine (G). 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