21-46161594-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001142854.2(SPATC1L):c.808G>A(p.Val270Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,458,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001142854.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SPATC1L | NM_001142854.2 | c.808G>A | p.Val270Met | missense_variant | Exon 5 of 5 | ENST00000291672.6 | NP_001136326.1 | |
SPATC1L | NM_032261.5 | c.346G>A | p.Val116Met | missense_variant | Exon 4 of 4 | NP_115637.3 | ||
SPATC1L | XM_005261188.6 | c.808G>A | p.Val270Met | missense_variant | Exon 5 of 5 | XP_005261245.1 | ||
SPATC1L | XM_011529756.3 | c.466G>A | p.Val156Met | missense_variant | Exon 3 of 3 | XP_011528058.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SPATC1L | ENST00000291672.6 | c.808G>A | p.Val270Met | missense_variant | Exon 5 of 5 | 2 | NM_001142854.2 | ENSP00000291672.5 | ||
SPATC1L | ENST00000330205.10 | c.346G>A | p.Val116Met | missense_variant | Exon 4 of 4 | 1 | ENSP00000333869.6 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458056Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 725182
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at