chr17-745258-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015721.3(GEMIN4):c.2785G>T(p.Asp929Tyr) 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. 13/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. D929N) has been classified as Benign.
Frequency
Consequence
NM_015721.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GEMIN4 | NM_015721.3 | c.2785G>T | p.Asp929Tyr | missense_variant | 2/2 | ENST00000319004.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GEMIN4 | ENST00000319004.6 | c.2785G>T | p.Asp929Tyr | missense_variant | 2/2 | 1 | NM_015721.3 | P1 | |
GEMIN4 | ENST00000576778.1 | c.2752G>T | p.Asp918Tyr | missense_variant | 1/1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 51
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at