4-154565832-C-T
Variant summary
Our verdict is Pathogenic. Variant got 18 ACMG points: 18P and 0B. PVS1PM2PP5_Very_Strong
The NM_005141.5(FGB):c.139C>T(p.Arg47*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000812 in 1,614,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_005141.5 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248902Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134756
GnomAD4 exome AF: 0.0000835 AC: 122AN: 1461844Hom.: 0 Cov.: 31 AF XY: 0.0000715 AC XY: 52AN XY: 727220
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74472
ClinVar
Submissions by phenotype
not provided Pathogenic:3
PP5, PM3_strong, PS4_moderate, PVS1 -
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Congenital afibrinogenemia Pathogenic:1
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Hypofibrinogenemia Pathogenic:1
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Afibrinogenemia Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at