chr10-73647760-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001114133.3(SYNPO2L):c.1892G>A(p.Gly631Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,820 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001114133.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SYNPO2L | NM_001114133.3 | c.1892G>A | p.Gly631Glu | missense_variant | Exon 4 of 4 | ENST00000394810.3 | NP_001107605.1 | |
SYNPO2L | NM_024875.5 | c.1220G>A | p.Gly407Glu | missense_variant | Exon 2 of 2 | NP_079151.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SYNPO2L | ENST00000394810.3 | c.1892G>A | p.Gly631Glu | missense_variant | Exon 4 of 4 | 1 | NM_001114133.3 | ENSP00000378289.2 | ||
SYNPO2L | ENST00000372873.8 | c.1220G>A | p.Gly407Glu | missense_variant | Exon 2 of 2 | 1 | ENSP00000361964.4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461636Hom.: 0 Cov.: 37 AF XY: 0.00 AC XY: 0AN XY: 727104
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1892G>A (p.G631E) alteration is located in exon 4 (coding exon 4) of the SYNPO2L gene. This alteration results from a G to A substitution at nucleotide position 1892, causing the glycine (G) at amino acid position 631 to be replaced by a glutamic acid (E). 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