X-133217509-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016521.3(TFDP3):c.751G>A(p.Val251Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000661 in 1,210,474 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016521.3 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: 0.00000891 AC: 1AN: 112230Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 34376
GnomAD3 exomes AF: 0.0000218 AC: 4AN: 183097Hom.: 0 AF XY: 0.0000147 AC XY: 1AN XY: 67861
GnomAD4 exome AF: 0.00000637 AC: 7AN: 1098244Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 1AN XY: 363598
GnomAD4 genome AF: 0.00000891 AC: 1AN: 112230Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 34376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.751G>A (p.V251I) alteration is located in exon 1 (coding exon 1) of the TFDP3 gene. This alteration results from a G to A substitution at nucleotide position 751, causing the valine (V) at amino acid position 251 to be replaced by an isoleucine (I). 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