12-117046812-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017899.4(TESC):c.376A>G(p.Ser126Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000356 in 1,571,782 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017899.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151922Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000918 AC: 17AN: 185154Hom.: 0 AF XY: 0.000122 AC XY: 12AN XY: 98438
GnomAD4 exome AF: 0.0000352 AC: 50AN: 1419860Hom.: 0 Cov.: 32 AF XY: 0.0000456 AC XY: 32AN XY: 702038
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151922Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74200
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.376A>G (p.S126G) alteration is located in exon 5 (coding exon 5) of the TESC gene. This alteration results from a A to G substitution at nucleotide position 376, causing the serine (S) at amino acid position 126 to be replaced by a glycine (G). 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