2-27150150-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_175769.3(TCF23):c.250C>T(p.Arg84Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000485 in 1,608,302 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R84Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_175769.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000731 AC: 18AN: 246264Hom.: 0 AF XY: 0.0000599 AC XY: 8AN XY: 133666
GnomAD4 exome AF: 0.0000495 AC: 72AN: 1455964Hom.: 0 Cov.: 31 AF XY: 0.0000635 AC XY: 46AN XY: 724274
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152338Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.250C>T (p.R84W) alteration is located in exon 2 (coding exon 2) of the TCF23 gene. This alteration results from a C to T substitution at nucleotide position 250, causing the arginine (R) at amino acid position 84 to be replaced by a tryptophan (W). 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