NM_022110.4:c.83A>G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_022110.4(FKBPL):āc.83A>Gā(p.Asn28Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00434 in 1,614,110 control chromosomes in the GnomAD database, including 38 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_022110.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FKBPL | NM_022110.4 | c.83A>G | p.Asn28Ser | missense_variant | Exon 2 of 2 | ENST00000375156.4 | NP_071393.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00450 AC: 684AN: 152100Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00601 AC: 1510AN: 251208Hom.: 19 AF XY: 0.00604 AC XY: 820AN XY: 135858
GnomAD4 exome AF: 0.00432 AC: 6314AN: 1461892Hom.: 36 Cov.: 33 AF XY: 0.00446 AC XY: 3241AN XY: 727248
GnomAD4 genome AF: 0.00450 AC: 685AN: 152218Hom.: 2 Cov.: 32 AF XY: 0.00451 AC XY: 336AN XY: 74434
ClinVar
Submissions by phenotype
FKBPL-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at