chr12-29270477-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001271783.2(FAR2):c.28G>A(p.Gly10Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000125 in 1,595,212 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001271783.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAR2 | NM_001271783.2 | c.28G>A | p.Gly10Ser | missense_variant | 2/12 | ENST00000536681.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAR2 | ENST00000536681.8 | c.28G>A | p.Gly10Ser | missense_variant | 2/12 | 1 | NM_001271783.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000322 AC: 49AN: 152156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000117 AC: 29AN: 247086Hom.: 0 AF XY: 0.0000748 AC XY: 10AN XY: 133616
GnomAD4 exome AF: 0.000104 AC: 150AN: 1442938Hom.: 0 Cov.: 29 AF XY: 0.000103 AC XY: 74AN XY: 716288
GnomAD4 genome ? AF: 0.000322 AC: 49AN: 152274Hom.: 0 Cov.: 33 AF XY: 0.000349 AC XY: 26AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.28G>A (p.G10S) alteration is located in exon 2 (coding exon 1) of the FAR2 gene. This alteration results from a G to A substitution at nucleotide position 28, causing the glycine (G) at amino acid position 10 to be replaced by a serine (S). 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