chr4-154567707-T-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PM5PP3_Moderate
The NM_005141.5(FGB):c.605T>C(p.Leu202Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,613,904 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L202Q) has been classified as Pathogenic.
Frequency
Consequence
NM_005141.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGB | NM_005141.5 | c.605T>C | p.Leu202Pro | missense_variant | 4/8 | ENST00000302068.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGB | ENST00000302068.9 | c.605T>C | p.Leu202Pro | missense_variant | 4/8 | 1 | NM_005141.5 | P1 | |
FGB | ENST00000509493.1 | c.-53T>C | 5_prime_UTR_variant | 2/6 | 5 | ||||
FGB | ENST00000473984.1 | n.518T>C | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
FGB | ENST00000502545.5 | n.586T>C | non_coding_transcript_exon_variant | 4/7 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461694Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727180
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at