rs11553387
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017895.8(DDX27):c.524G>C(p.Gly175Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,644 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
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.524G>C | p.Gly175Ala | missense_variant | 6/21 | ENST00000618172.5 | |
DDX27 | NM_001348187.2 | c.524G>C | p.Gly175Ala | missense_variant | 6/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDX27 | ENST00000618172.5 | c.524G>C | p.Gly175Ala | missense_variant | 6/21 | 1 | NM_017895.8 | P1 | |
DDX27 | ENST00000484427.5 | n.626G>C | non_coding_transcript_exon_variant | 6/19 | 1 | ||||
DDX27 | ENST00000493252.2 | c.50G>C | p.Gly17Ala | missense_variant | 2/8 | 3 | |||
DDX27 | ENST00000462328.2 | c.*184G>C | 3_prime_UTR_variant, NMD_transcript_variant | 6/7 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461644Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727122
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at