chr22-40019328-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138435.4(FAM83F):c.650G>A(p.Arg217Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000428 in 1,613,576 control chromosomes in the GnomAD database, with no homozygous occurrence. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R217W) has been classified as Uncertain significance.
Frequency
Consequence
NM_138435.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM83F | NM_138435.4 | c.650G>A | p.Arg217Gln | missense_variant | 2/5 | ENST00000333407.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM83F | ENST00000333407.11 | c.650G>A | p.Arg217Gln | missense_variant | 2/5 | 1 | NM_138435.4 | P1 | |
FAM83F | ENST00000473717.1 | c.146G>A | p.Arg49Gln | missense_variant | 2/5 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152146Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461430Hom.: 0 Cov.: 32 AF XY: 0.0000454 AC XY: 33AN XY: 726956
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 18, 2023 | The c.650G>A (p.R217Q) alteration is located in exon 2 (coding exon 2) of the FAM83F gene. This alteration results from a G to A substitution at nucleotide position 650, causing the arginine (R) at amino acid position 217 to be replaced by a glutamine (Q). 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