8-124493927-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032026.4(TATDN1):c.697G>A(p.Ala233Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000521 in 1,612,640 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032026.4 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: 0.000191 AC: 29AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000479 AC: 12AN: 250512Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135430
GnomAD4 exome AF: 0.0000377 AC: 55AN: 1460326Hom.: 0 Cov.: 30 AF XY: 0.0000303 AC XY: 22AN XY: 726492
GnomAD4 genome AF: 0.000190 AC: 29AN: 152314Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.697G>A (p.A233T) alteration is located in exon 11 (coding exon 11) of the TATDN1 gene. This alteration results from a G to A substitution at nucleotide position 697, causing the alanine (A) at amino acid position 233 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