22-40019327-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138435.4(FAM83F):c.649C>T(p.Arg217Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000682 in 1,613,666 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R217Q) 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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM83F | ENST00000333407.11 | c.649C>T | p.Arg217Trp | missense_variant | Exon 2 of 5 | 1 | NM_138435.4 | ENSP00000330432.5 | ||
FAM83F | ENST00000473717.1 | c.145C>T | p.Arg49Trp | missense_variant | Exon 2 of 5 | 1 | ENSP00000476600.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000598 AC: 15AN: 250988Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135644
GnomAD4 exome AF: 0.0000712 AC: 104AN: 1461404Hom.: 0 Cov.: 32 AF XY: 0.0000702 AC XY: 51AN XY: 726932
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152262Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.649C>T (p.R217W) alteration is located in exon 2 (coding exon 2) of the FAM83F gene. This alteration results from a C to T substitution at nucleotide position 649, causing the arginine (R) at amino acid position 217 to be replaced by a tryptophan (W). 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