3-51674333-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015926.6(TEX264):āc.29T>Cā(p.Ile10Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000318 in 1,614,200 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015926.6 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: 0.000217 AC: 33AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000139 AC: 35AN: 251274Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135824
GnomAD4 exome AF: 0.000329 AC: 481AN: 1461880Hom.: 1 Cov.: 32 AF XY: 0.000301 AC XY: 219AN XY: 727240
GnomAD4 genome AF: 0.000217 AC: 33AN: 152320Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.29T>C (p.I10T) alteration is located in exon 3 (coding exon 1) of the TEX264 gene. This alteration results from a T to C substitution at nucleotide position 29, causing the isoleucine (I) at amino acid position 10 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