13-77599712-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_144777.3(SCEL):c.881T>C(p.Ile294Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,612,362 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_144777.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152214Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000319 AC: 8AN: 251152 AF XY: 0.0000368 show subpopulations
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1460148Hom.: 0 Cov.: 28 AF XY: 0.0000206 AC XY: 15AN XY: 726536 show subpopulations
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74380 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.881T>C (p.I294T) alteration is located in exon 15 (coding exon 14) of the SCEL gene. This alteration results from a T to C substitution at nucleotide position 881, causing the isoleucine (I) at amino acid position 294 to be replaced by a threonine (T). 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