chrX-100686110-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001370165.1(SYTL4):c.1329G>T(p.Gln443His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000414 in 1,208,725 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001370165.1 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 |
---|---|---|---|---|---|---|---|---|
SYTL4 | NM_001370165.1 | c.1329G>T | p.Gln443His | missense_variant | Exon 16 of 20 | ENST00000372989.6 | NP_001357094.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000892 AC: 1AN: 112075Hom.: 0 Cov.: 23 AF XY: 0.0000292 AC XY: 1AN XY: 34231
GnomAD4 exome AF: 0.00000365 AC: 4AN: 1096650Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 1AN XY: 362062
GnomAD4 genome AF: 0.00000892 AC: 1AN: 112075Hom.: 0 Cov.: 23 AF XY: 0.0000292 AC XY: 1AN XY: 34231
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1329G>T (p.Q443H) alteration is located in exon 15 (coding exon 12) of the SYTL4 gene. This alteration results from a G to T substitution at nucleotide position 1329, causing the glutamine (Q) at amino acid position 443 to be replaced by a histidine (H). 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