9-130617800-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_003934.2(FUBP3):c.571C>T(p.Arg191Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000822 in 1,581,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003934.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FUBP3 | NM_003934.2 | c.571C>T | p.Arg191Trp | missense_variant | Exon 8 of 19 | ENST00000319725.10 | NP_003925.1 | |
FUBP3 | XM_005272232.3 | c.571C>T | p.Arg191Trp | missense_variant | Exon 8 of 18 | XP_005272289.1 | ||
FUBP3 | XM_011519172.4 | c.571C>T | p.Arg191Trp | missense_variant | Exon 8 of 17 | XP_011517474.1 | ||
FUBP3 | XR_007061369.1 | n.675C>T | non_coding_transcript_exon_variant | Exon 8 of 15 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249396Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135288
GnomAD4 exome AF: 0.00000769 AC: 11AN: 1429700Hom.: 0 Cov.: 27 AF XY: 0.00000421 AC XY: 3AN XY: 713280
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.571C>T (p.R191W) alteration is located in exon 8 (coding exon 8) of the FUBP3 gene. This alteration results from a C to T substitution at nucleotide position 571, causing the arginine (R) at amino acid position 191 to be replaced by a tryptophan (W). 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