1-37997843-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_004468.5(FHL3):c.529C>T(p.Arg177Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000335 in 1,613,884 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 Uncertain significance (★).
Frequency
Consequence
NM_004468.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FHL3 | ENST00000373016.4 | c.529C>T | p.Arg177Cys | missense_variant | Exon 5 of 6 | 1 | NM_004468.5 | ENSP00000362107.3 | ||
FHL3 | ENST00000485803.5 | n.519C>T | non_coding_transcript_exon_variant | Exon 4 of 5 | 1 | |||||
FHL3 | ENST00000475084.5 | n.349C>T | non_coding_transcript_exon_variant | Exon 3 of 4 | 5 | |||||
FHL3 | ENST00000477194.5 | n.717C>T | non_coding_transcript_exon_variant | Exon 5 of 6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251278Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135812
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461760Hom.: 0 Cov.: 34 AF XY: 0.0000289 AC XY: 21AN XY: 727178
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.529C>T (p.R177C) alteration is located in exon 5 (coding exon 4) of the FHL3 gene. This alteration results from a C to T substitution at nucleotide position 529, causing the arginine (R) at amino acid position 177 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at