rs772642922
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000371806.4(FCN1):c.454G>T(p.Gly152Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,532 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. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
ENST00000371806.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FCN1 | NM_002003.5 | c.454G>T | p.Gly152Ter | stop_gained | 6/9 | ENST00000371806.4 | NP_001994.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCN1 | ENST00000371806.4 | c.454G>T | p.Gly152Ter | stop_gained | 6/9 | 1 | NM_002003.5 | ENSP00000360871 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243888Hom.: 0 AF XY: 0.00000756 AC XY: 1AN XY: 132304
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459532Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 725862
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at