chr16-86579364-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005250.3(FOXL1):c.641C>G(p.Pro214Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000481 in 1,496,602 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005250.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXL1 | NM_005250.3 | c.641C>G | p.Pro214Arg | missense_variant | 1/1 | ENST00000320241.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXL1 | ENST00000320241.5 | c.641C>G | p.Pro214Arg | missense_variant | 1/1 | NM_005250.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000257 AC: 39AN: 151998Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000316 AC: 3AN: 95034Hom.: 0 AF XY: 0.0000187 AC XY: 1AN XY: 53406
GnomAD4 exome AF: 0.0000231 AC: 31AN: 1344498Hom.: 0 Cov.: 35 AF XY: 0.0000196 AC XY: 13AN XY: 663048
GnomAD4 genome ? AF: 0.000270 AC: 41AN: 152104Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2021 | The c.641C>G (p.P214R) alteration is located in exon 1 (coding exon 1) of the FOXL1 gene. This alteration results from a C to G substitution at nucleotide position 641, causing the proline (P) at amino acid position 214 to be replaced by an arginine (R). 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