X-136207034-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001159702.3(FHL1):c.175C>A(p.Arg59Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000894 in 111,866 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R59C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001159702.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FHL1 | NM_001159702.3 | c.175C>A | p.Arg59Ser | missense_variant | 4/8 | ENST00000394155.8 | |
FHL1 | NM_001159699.2 | c.223C>A | p.Arg75Ser | missense_variant | 3/6 | ENST00000370683.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FHL1 | ENST00000394155.8 | c.175C>A | p.Arg59Ser | missense_variant | 4/8 | 5 | NM_001159702.3 | ||
FHL1 | ENST00000370683.6 | c.223C>A | p.Arg75Ser | missense_variant | 3/6 | 1 | NM_001159699.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000894 AC: 1AN: 111866Hom.: 0 Cov.: 23 AF XY: 0.0000294 AC XY: 1AN XY: 34048
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000894 AC: 1AN: 111866Hom.: 0 Cov.: 23 AF XY: 0.0000294 AC XY: 1AN XY: 34048
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at