rs533896380
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_181342.3(FKBP7):c.239G>T(p.Gly80Val) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,458,050 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G80D) has been classified as Uncertain significance.
Frequency
Consequence
NM_181342.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246366Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133226
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458050Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725292
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at