rs56128152
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_012188.5(FOXI1):c.972G>A(p.Pro324=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000231 in 1,602,982 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P324P) has been classified as Likely benign.
Frequency
Consequence
NM_012188.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXI1 | NM_012188.5 | c.972G>A | p.Pro324= | synonymous_variant | 2/2 | ENST00000306268.8 | |
FOXI1 | NM_144769.4 | c.687G>A | p.Pro229= | synonymous_variant | 2/2 | ||
FOXI1 | XR_941092.2 | n.1178G>A | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXI1 | ENST00000306268.8 | c.972G>A | p.Pro324= | synonymous_variant | 2/2 | 1 | NM_012188.5 | P1 | |
FOXI1 | ENST00000449804.4 | c.687G>A | p.Pro229= | synonymous_variant | 2/2 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000326 AC: 8AN: 245174Hom.: 0 AF XY: 0.0000378 AC XY: 5AN XY: 132330
GnomAD4 exome AF: 0.0000165 AC: 24AN: 1450708Hom.: 0 Cov.: 34 AF XY: 0.0000195 AC XY: 14AN XY: 719746
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152274Hom.: 1 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74440
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at