3-130094469-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001136152.1(ALG1L2):c.380T>C(p.Val127Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000052 in 1,595,976 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_001136152.1 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: 0.0000461 AC: 7AN: 151956Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000172 AC: 4AN: 232680Hom.: 0 AF XY: 0.0000156 AC XY: 2AN XY: 128226
GnomAD4 exome AF: 0.0000526 AC: 76AN: 1444020Hom.: 0 Cov.: 57 AF XY: 0.0000598 AC XY: 43AN XY: 718760
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151956Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74236
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.380T>C (p.V127A) alteration is located in exon 5 (coding exon 5) of the ALG1L2 gene. This alteration results from a T to C substitution at nucleotide position 380, causing the valine (V) at amino acid position 127 to be replaced by an alanine (A). 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