17-28758527-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001077498.3(FAM222B):c.1432G>T(p.Gly478Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000106 in 1,611,070 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001077498.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM222B | NM_001077498.3 | c.1432G>T | p.Gly478Trp | missense_variant | Exon 3 of 3 | ENST00000581407.6 | NP_001070966.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000814 AC: 2AN: 245706Hom.: 0 AF XY: 0.00000748 AC XY: 1AN XY: 133648
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1458862Hom.: 0 Cov.: 30 AF XY: 0.00000964 AC XY: 7AN XY: 725888
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1432G>T (p.G478W) alteration is located in exon 4 (coding exon 2) of the FAM222B gene. This alteration results from a G to T substitution at nucleotide position 1432, causing the glycine (G) at amino acid position 478 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