2-74516010-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016170.5(TLX2):c.676C>G(p.Arg226Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000329 in 1,518,916 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R226R) has been classified as Benign.
Frequency
Consequence
NM_016170.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152112Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000847 AC: 1AN: 118064Hom.: 0 AF XY: 0.0000150 AC XY: 1AN XY: 66474
GnomAD4 exome AF: 0.00000219 AC: 3AN: 1366804Hom.: 0 Cov.: 31 AF XY: 0.00000148 AC XY: 1AN XY: 675120
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152112Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.676C>G (p.R226G) alteration is located in exon 3 (coding exon 3) of the TLX2 gene. This alteration results from a C to G substitution at nucleotide position 676, causing the arginine (R) at amino acid position 226 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