rs8137714
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001033024.2(FBXO7):c.35T>A(p.Leu12His) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,458,946 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/17 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L12R) has been classified as Benign.
Frequency
Consequence
NM_001033024.2 missense, splice_region
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 |
---|---|---|---|---|---|---|---|---|
FBXO7 | NM_012179.4 | c.122+272T>A | intron_variant | ENST00000266087.12 | NP_036311.3 | |||
FBXO7 | NM_001033024.2 | c.35T>A | p.Leu12His | missense_variant, splice_region_variant | 1/9 | NP_001028196.1 | ||
FBXO7 | NM_001257990.2 | c.-223T>A | splice_region_variant | 1/9 | NP_001244919.1 | |||
FBXO7 | NM_001257990.2 | c.-223T>A | 5_prime_UTR_variant | 1/9 | NP_001244919.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO7 | ENST00000266087.12 | c.122+272T>A | intron_variant | 1 | NM_012179.4 | ENSP00000266087.7 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1458946Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 725824
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at