rs6054
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_005141.5(FGB):c.794C>A(p.Pro265Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000138 in 1,445,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005141.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FGB | ENST00000302068.9 | c.794C>A | p.Pro265Gln | missense_variant | Exon 5 of 8 | 1 | NM_005141.5 | ENSP00000306099.4 | ||
FGB | ENST00000509493.1 | c.137C>A | p.Pro46Gln | missense_variant | Exon 3 of 6 | 5 | ENSP00000426757.1 | |||
FGB | ENST00000502545.5 | n.775C>A | non_coding_transcript_exon_variant | Exon 5 of 7 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1445296Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 720110
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.