9-94606815-TGG-TGGG
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_000507.4(FBP1):c.704_705insC(p.Asp236ArgfsTer2) variant causes a frameshift, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,180 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P235P) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000507.4 frameshift, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBP1 | NM_000507.4 | c.704_705insC | p.Asp236ArgfsTer2 | frameshift_variant, splice_region_variant | 5/7 | ENST00000375326.9 | |
FBP1 | NM_001127628.2 | c.704_705insC | p.Asp236ArgfsTer2 | frameshift_variant, splice_region_variant | 6/8 | ||
FBP1 | XM_006717005.5 | c.458_459insC | p.Asp154ArgfsTer2 | frameshift_variant, splice_region_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBP1 | ENST00000375326.9 | c.704_705insC | p.Asp236ArgfsTer2 | frameshift_variant, splice_region_variant | 5/7 | 1 | NM_000507.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461180Hom.: 0 Cov.: 42 AF XY: 0.00000413 AC XY: 3AN XY: 726896
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at