chrX-153346878-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001367757.1(ZNF275):c.193G>A(p.Ala65Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001367757.1 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 |
---|---|---|---|---|---|---|---|
ZNF275 | NM_001367757.1 | c.193G>A | p.Ala65Thr | missense_variant | 4/4 | ENST00000650114.2 | |
ZNF275 | NM_001080485.4 | c.193G>A | p.Ala65Thr | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF275 | ENST00000650114.2 | c.193G>A | p.Ala65Thr | missense_variant | 4/4 | NM_001367757.1 | A2 | ||
ZNF275 | ENST00000370249.3 | c.34G>A | p.Ala12Thr | missense_variant | 3/3 | 1 | P2 | ||
ZNF275 | ENST00000370251.3 | c.193G>A | p.Ala65Thr | missense_variant | 4/5 | 2 | |||
ZNF275 | ENST00000647705.1 | n.1405G>A | non_coding_transcript_exon_variant | 2/2 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 24
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.