rs148094497
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031482.5(ATG10):c.328G>A(p.Val110Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,613,338 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031482.5 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: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251102Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135722
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461068Hom.: 0 Cov.: 30 AF XY: 0.0000179 AC XY: 13AN XY: 726892
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.328G>A (p.V110I) alteration is located in exon 5 (coding exon 3) of the ATG10 gene. This alteration results from a G to A substitution at nucleotide position 328, causing the valine (V) at amino acid position 110 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