18-13682058-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152352.4(FAM210A):c.20G>A(p.Arg7Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000812 in 1,600,014 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152352.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM210A | NM_152352.4 | c.20G>A | p.Arg7Gln | missense_variant | Exon 2 of 4 | ENST00000651643.1 | NP_689565.2 | |
FAM210A | NM_001098801.2 | c.20G>A | p.Arg7Gln | missense_variant | Exon 3 of 5 | NP_001092271.1 | ||
FAM210A | XM_024451083.2 | c.20G>A | p.Arg7Gln | missense_variant | Exon 2 of 4 | XP_024306851.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152096Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000833 AC: 2AN: 240132Hom.: 0 AF XY: 0.00000772 AC XY: 1AN XY: 129538
GnomAD4 exome AF: 0.00000760 AC: 11AN: 1447918Hom.: 0 Cov.: 30 AF XY: 0.00000974 AC XY: 7AN XY: 718804
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152096Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.20G>A (p.R7Q) alteration is located in exon 3 (coding exon 1) of the FAM210A gene. This alteration results from a G to A substitution at nucleotide position 20, causing the arginine (R) at amino acid position 7 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