6-96605907-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001322466.2(FHL5):c.340C>T(p.Arg114Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,613,552 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_001322466.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FHL5 | ENST00000450218.6 | c.340C>T | p.Arg114Cys | missense_variant | Exon 4 of 6 | 5 | NM_001322466.2 | ENSP00000396390.2 | ||
FHL5 | ENST00000326771.2 | c.340C>T | p.Arg114Cys | missense_variant | Exon 5 of 7 | 1 | ENSP00000326022.2 | |||
FHL5 | ENST00000541107.5 | c.340C>T | p.Arg114Cys | missense_variant | Exon 4 of 6 | 1 | ENSP00000442357.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250998Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135632
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461472Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727010
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.340C>T (p.R114C) alteration is located in exon 5 (coding exon 3) of the FHL5 gene. This alteration results from a C to T substitution at nucleotide position 340, causing the arginine (R) at amino acid position 114 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