chr17-75923363-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001319193.2(FBF1):c.1247G>A(p.Gly416Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000413 in 1,453,092 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001319193.2 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 |
---|---|---|---|---|---|---|---|---|
FBF1 | NM_001319193.2 | c.1247G>A | p.Gly416Glu | missense_variant | 14/30 | ENST00000636174.2 | NP_001306122.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBF1 | ENST00000636174.2 | c.1247G>A | p.Gly416Glu | missense_variant | 14/30 | 5 | NM_001319193.2 | ENSP00000490726.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000413 AC: 6AN: 1453092Hom.: 0 Cov.: 31 AF XY: 0.00000554 AC XY: 4AN XY: 722118
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 01, 2024 | The c.1202G>A (p.G401E) alteration is located in exon 13 (coding exon 12) of the FBF1 gene. This alteration results from a G to A substitution at nucleotide position 1202, causing the glycine (G) at amino acid position 401 to be replaced by a glutamic acid (E). 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