9-85579069-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001330701.2(AGTPBP1):c.3193G>A(p.Ala1065Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000436 in 1,607,116 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001330701.2 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: 0.00000658 AC: 1AN: 151900Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1455216Hom.: 0 Cov.: 30 AF XY: 0.00000691 AC XY: 5AN XY: 723922
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151900Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74176
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3073G>A (p.A1025T) alteration is located in exon 24 (coding exon 23) of the AGTPBP1 gene. This alteration results from a G to A substitution at nucleotide position 3073, causing the alanine (A) at amino acid position 1025 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