rs1424503926
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000370683.6(FHL1):c.189C>A(p.Ile63=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. I63I) has been classified as Likely benign.
Frequency
Consequence
ENST00000370683.6 synonymous
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 |
---|---|---|---|---|---|---|---|---|
FHL1 | NM_001159702.3 | c.141C>A | p.Ile47= | synonymous_variant | 3/8 | ENST00000394155.8 | NP_001153174.1 | |
FHL1 | NM_001159699.2 | c.189C>A | p.Ile63= | synonymous_variant | 2/6 | ENST00000370683.6 | NP_001153171.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FHL1 | ENST00000394155.8 | c.141C>A | p.Ile47= | synonymous_variant | 3/8 | 5 | NM_001159702.3 | ENSP00000377710 | ||
FHL1 | ENST00000370683.6 | c.189C>A | p.Ile63= | synonymous_variant | 2/6 | 1 | NM_001159699.2 | ENSP00000359717 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 113259Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 35385 FAILED QC
GnomAD4 exome Cov.: 31
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 113259Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 35385
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at