2-201330770-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001127391.3(FLACC1):c.588G>C(p.Leu196Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000141 in 1,613,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001127391.3 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 |
---|---|---|---|---|---|---|---|---|
FLACC1 | NM_001127391.3 | c.588G>C | p.Leu196Phe | missense_variant | Exon 8 of 15 | ENST00000392257.8 | NP_001120863.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152132Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000598 AC: 15AN: 250960Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135624
GnomAD4 exome AF: 0.000148 AC: 217AN: 1461740Hom.: 0 Cov.: 31 AF XY: 0.000161 AC XY: 117AN XY: 727154
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152132Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.588G>C (p.L196F) alteration is located in exon 8 (coding exon 7) of the ALS2CR12 gene. This alteration results from a G to C substitution at nucleotide position 588, causing the leucine (L) at amino acid position 196 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at