rs865779742
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000507.4(FBP1):c.916G>T(p.Val306Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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. V306I) has been classified as Likely benign.
Frequency
Consequence
NM_000507.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBP1 | NM_000507.4 | c.916G>T | p.Val306Phe | missense_variant | 7/7 | ENST00000375326.9 | |
FBP1 | NM_001127628.2 | c.916G>T | p.Val306Phe | missense_variant | 8/8 | ||
FBP1 | XM_006717005.5 | c.670G>T | p.Val224Phe | missense_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBP1 | ENST00000375326.9 | c.916G>T | p.Val306Phe | missense_variant | 7/7 | 1 | NM_000507.4 | P1 | |
PCAT7 | ENST00000647389.1 | n.1834C>A | non_coding_transcript_exon_variant | 9/9 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at