1-37997859-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004468.5(FHL3):āc.513G>Cā(p.Gln171His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,502 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004468.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FHL3 | ENST00000373016.4 | c.513G>C | p.Gln171His | missense_variant | Exon 5 of 6 | 1 | NM_004468.5 | ENSP00000362107.3 | ||
FHL3 | ENST00000485803.5 | n.503G>C | non_coding_transcript_exon_variant | Exon 4 of 5 | 1 | |||||
FHL3 | ENST00000475084.5 | n.333G>C | non_coding_transcript_exon_variant | Exon 3 of 4 | 5 | |||||
FHL3 | ENST00000477194.5 | n.701G>C | non_coding_transcript_exon_variant | Exon 5 of 6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251172Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135758
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461502Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 726998
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.513G>C (p.Q171H) alteration is located in exon 5 (coding exon 4) of the FHL3 gene. This alteration results from a G to C substitution at nucleotide position 513, causing the glutamine (Q) at amino acid position 171 to be replaced by a histidine (H). 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