rs146321570
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005892.4(FMNL1):c.1226C>A(p.Ala409Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. 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. A409V) has been classified as Uncertain significance.
Frequency
Consequence
NM_005892.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FMNL1 | NM_005892.4 | c.1226C>A | p.Ala409Glu | missense_variant | Exon 12 of 27 | ENST00000331495.8 | NP_005883.3 | |
FMNL1 | NM_001411128.1 | c.1226C>A | p.Ala409Glu | missense_variant | Exon 12 of 26 | NP_001398057.1 | ||
FMNL1-AS1 | NR_186807.1 | n.825+325G>T | intron_variant | Intron 1 of 1 | ||||
FMNL1-AS1 | NR_186808.1 | n.661-17G>T | intron_variant | Intron 1 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249588Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134908
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460608Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726568
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at