17-75923222-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001319193.2(FBF1):āc.1388A>Gā(p.His463Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000177 in 1,592,824 control chromosomes in the GnomAD database, including 2 homozygotes. 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 (ā ).
Frequency
Consequence
NM_001319193.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152238Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000408 AC: 88AN: 215600Hom.: 0 AF XY: 0.000418 AC XY: 49AN XY: 117086
GnomAD4 exome AF: 0.000180 AC: 259AN: 1440586Hom.: 1 Cov.: 31 AF XY: 0.000206 AC XY: 147AN XY: 714684
GnomAD4 genome AF: 0.000151 AC: 23AN: 152238Hom.: 1 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 15, 2021 | The c.1343A>G (p.H448R) alteration is located in exon 13 (coding exon 12) of the FBF1 gene. This alteration results from a A to G substitution at nucleotide position 1343, causing the histidine (H) at amino acid position 448 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