1-37997971-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_004468.5(FHL3):āc.493T>Gā(p.Cys165Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,848 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 (ā ).
Frequency
Consequence
NM_004468.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FHL3 | ENST00000373016.4 | c.493T>G | p.Cys165Gly | missense_variant | Exon 4 of 6 | 1 | NM_004468.5 | ENSP00000362107.3 | ||
FHL3 | ENST00000485803.5 | n.483T>G | non_coding_transcript_exon_variant | Exon 3 of 5 | 1 | |||||
FHL3 | ENST00000477194.5 | n.681T>G | non_coding_transcript_exon_variant | Exon 4 of 6 | 2 | |||||
FHL3 | ENST00000475084.5 | n.322-101T>G | intron_variant | Intron 2 of 3 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251322Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135860
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461848Hom.: 0 Cov.: 34 AF XY: 0.00000825 AC XY: 6AN XY: 727238
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.493T>G (p.C165G) alteration is located in exon 4 (coding exon 3) of the FHL3 gene. This alteration results from a T to G substitution at nucleotide position 493, causing the cysteine (C) at amino acid position 165 to be replaced by a glycine (G). 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