10-92456389-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004969.4(IDE):c.2866G>A(p.Val956Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000378 in 1,613,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004969.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251392Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135856
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1461438Hom.: 0 Cov.: 29 AF XY: 0.0000344 AC XY: 25AN XY: 727072
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2866G>A (p.V956I) alteration is located in exon 23 (coding exon 23) of the IDE gene. This alteration results from a G to A substitution at nucleotide position 2866, causing the valine (V) at amino acid position 956 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