rs370450076
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012188.5(FOXI1):c.308G>A(p.Gly103Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000196 in 1,580,624 control chromosomes in the GnomAD database, including 1 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G103A) has been classified as Likely benign.
Frequency
Consequence
NM_012188.5 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 |
---|---|---|---|---|---|---|---|
FOXI1 | NM_012188.5 | c.308G>A | p.Gly103Glu | missense_variant | 1/2 | ENST00000306268.8 | |
FOXI1 | NM_144769.4 | c.308G>A | p.Gly103Glu | missense_variant | 1/2 | ||
FOXI1 | XR_941092.2 | n.369G>A | non_coding_transcript_exon_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXI1 | ENST00000306268.8 | c.308G>A | p.Gly103Glu | missense_variant | 1/2 | 1 | NM_012188.5 | P1 | |
FOXI1 | ENST00000449804.4 | c.308G>A | p.Gly103Glu | missense_variant | 1/2 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152214Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000468 AC: 9AN: 192438Hom.: 0 AF XY: 0.0000580 AC XY: 6AN XY: 103458
GnomAD4 exome AF: 0.0000196 AC: 28AN: 1428410Hom.: 1 Cov.: 34 AF XY: 0.0000283 AC XY: 20AN XY: 707688
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at