6-98899395-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000369244.7(FBXL4):c.1190C>T(p.Ser397Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. S397Y) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000369244.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXL4 | NM_001278716.2 | c.1190C>T | p.Ser397Phe | missense_variant | 7/10 | ENST00000369244.7 | NP_001265645.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXL4 | ENST00000369244.7 | c.1190C>T | p.Ser397Phe | missense_variant | 7/10 | 1 | NM_001278716.2 | ENSP00000358247 | P1 | |
FBXL4 | ENST00000229971.2 | c.1190C>T | p.Ser397Phe | missense_variant | 6/9 | 1 | ENSP00000229971 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at