11-1836247-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394072.1(SYT8):c.479C>T(p.Thr160Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000417 in 1,580,898 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394072.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SYT8 | NM_001394072.1 | c.479C>T | p.Thr160Met | missense_variant | Exon 4 of 8 | ENST00000341958.4 | NP_001381001.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152176Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000873 AC: 18AN: 206150Hom.: 0 AF XY: 0.0000984 AC XY: 11AN XY: 111798
GnomAD4 exome AF: 0.0000392 AC: 56AN: 1428604Hom.: 0 Cov.: 36 AF XY: 0.0000550 AC XY: 39AN XY: 708840
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152294Hom.: 0 Cov.: 34 AF XY: 0.0000806 AC XY: 6AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.521C>T (p.T174M) alteration is located in exon 5 (coding exon 5) of the SYT8 gene. This alteration results from a C to T substitution at nucleotide position 521, causing the threonine (T) at amino acid position 174 to be replaced by a methionine (M). 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