rs2227346
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003950.4(F2RL3):c.886T>A(p.Phe296Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000138 in 1,449,304 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. F296V) has been classified as Likely benign.
Frequency
Consequence
NM_003950.4 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 |
---|---|---|---|---|---|---|---|
F2RL3 | NM_003950.4 | c.886T>A | p.Phe296Ile | missense_variant | 2/2 | ENST00000248076.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
F2RL3 | ENST00000248076.4 | c.886T>A | p.Phe296Ile | missense_variant | 2/2 | 1 | NM_003950.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000441 AC: 1AN: 226598Hom.: 0 AF XY: 0.00000801 AC XY: 1AN XY: 124834
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1449304Hom.: 0 Cov.: 33 AF XY: 0.00000277 AC XY: 2AN XY: 720916
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at