chr1-159833037-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020125.3(SLAMF8):c.529C>T(p.His177Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,894 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020125.3 missense
Scores
Clinical Significance
Conservation
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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.529C>T | p.His177Tyr | missense_variant | Exon 3 of 5 | 1 | NM_020125.3 | ENSP00000289707.5 | ||
SLAMF8 | ENST00000368104.4 | c.202C>T | p.His68Tyr | missense_variant | Exon 2 of 4 | 2 | ENSP00000357084.4 | |||
SLAMF8 | ENST00000471286.5 | n.347C>T | non_coding_transcript_exon_variant | Exon 2 of 4 | 3 | |||||
SLAMF8 | ENST00000497141.1 | n.33C>T | non_coding_transcript_exon_variant | Exon 1 of 4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251488Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135918
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461894Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727248
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.529C>T (p.H177Y) alteration is located in exon 3 (coding exon 3) of the SLAMF8 gene. This alteration results from a C to T substitution at nucleotide position 529, causing the histidine (H) at amino acid position 177 to be replaced by a tyrosine (Y). 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