7-50445840-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001287492.4(FIGNL1):c.1448G>A(p.Arg483His) variant causes a missense change. The variant allele was found at a frequency of 0.0000359 in 1,614,048 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001287492.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 251096Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135752
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461838Hom.: 0 Cov.: 33 AF XY: 0.0000344 AC XY: 25AN XY: 727216
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1448G>A (p.R483H) alteration is located in exon 4 (coding exon 1) of the FIGNL1 gene. This alteration results from a G to A substitution at nucleotide position 1448, causing the arginine (R) at amino acid position 483 to be replaced by a histidine (H). 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