3-51674425-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015926.6(TEX264):c.121C>T(p.Pro41Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000204 in 1,614,196 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_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: 0.000118 AC: 18AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251408Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135906
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461868Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727240
GnomAD4 genome AF: 0.000118 AC: 18AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74476
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.121C>T (p.P41S) alteration is located in exon 3 (coding exon 1) of the TEX264 gene. This alteration results from a C to T substitution at nucleotide position 121, causing the proline (P) at amino acid position 41 to be replaced by a serine (S). 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