chrX-23000316-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182699.4(DDX53):c.259G>T(p.Gly87Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G87A) has been classified as Uncertain significance.
Frequency
Consequence
NM_182699.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDX53 | NM_182699.4 | c.259G>T | p.Gly87Trp | missense_variant | 1/1 | ENST00000327968.7 | |
PTCHD1-AS | NR_073010.2 | n.343+63722C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDX53 | ENST00000327968.7 | c.259G>T | p.Gly87Trp | missense_variant | 1/1 | NM_182699.4 | P1 | ||
ENST00000687248.1 | n.343+63722C>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000687119.1 | n.83-56168C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 24
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Oct 24, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.