9-130623656-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003934.2(FUBP3):c.920C>T(p.Pro307Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000341 in 1,613,954 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_003934.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FUBP3 | NM_003934.2 | c.920C>T | p.Pro307Leu | missense_variant | Exon 11 of 19 | ENST00000319725.10 | NP_003925.1 | |
FUBP3 | XM_005272232.3 | c.920C>T | p.Pro307Leu | missense_variant | Exon 11 of 18 | XP_005272289.1 | ||
FUBP3 | XM_011519172.4 | c.920C>T | p.Pro307Leu | missense_variant | Exon 11 of 17 | XP_011517474.1 | ||
FUBP3 | XR_007061369.1 | n.1024C>T | non_coding_transcript_exon_variant | Exon 11 of 15 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249462Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135346
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1461658Hom.: 0 Cov.: 30 AF XY: 0.0000550 AC XY: 40AN XY: 727144
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.920C>T (p.P307L) alteration is located in exon 11 (coding exon 11) of the FUBP3 gene. This alteration results from a C to T substitution at nucleotide position 920, causing the proline (P) at amino acid position 307 to be replaced by a leucine (L). 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