rs757511770
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020066.5(FMN2):āc.547A>Cā(p.Ile183Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,613,980 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_020066.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FMN2 | NM_020066.5 | c.547A>C | p.Ile183Leu | missense_variant | 1/18 | ENST00000319653.14 | NP_064450.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FMN2 | ENST00000319653.14 | c.547A>C | p.Ile183Leu | missense_variant | 1/18 | 5 | NM_020066.5 | ENSP00000318884 | P1 | |
FMN2 | ENST00000447095.5 | c.-87+24583A>C | intron_variant | 3 | ENSP00000409308 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249242Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134950
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461816Hom.: 0 Cov.: 89 AF XY: 0.00000275 AC XY: 2AN XY: 727224
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at