chr1-159829881-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020125.3(SLAMF8):c.56C>A(p.Thr19Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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. T19I) has been classified as Uncertain significance.
Frequency
Consequence
NM_020125.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLAMF8 | ENST00000289707.10 | c.56C>A | p.Thr19Lys | missense_variant | Exon 2 of 5 | 1 | NM_020125.3 | ENSP00000289707.5 | ||
SLAMF8 | ENST00000368104.4 | c.40+2943C>A | intron_variant | Intron 1 of 3 | 2 | ENSP00000357084.4 | ||||
SLAMF8 | ENST00000471286.5 | n.-127C>A | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458484Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 725348
GnomAD4 genome Cov.: 33
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.