6-96603624-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001322466.2(FHL5):c.11C>T(p.Ala4Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,610,142 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FHL5 | ENST00000450218.6 | c.11C>T | p.Ala4Val | missense_variant | Exon 2 of 6 | 5 | NM_001322466.2 | ENSP00000396390.2 | ||
FHL5 | ENST00000326771.2 | c.11C>T | p.Ala4Val | missense_variant | Exon 3 of 7 | 1 | ENSP00000326022.2 | |||
FHL5 | ENST00000541107.5 | c.11C>T | p.Ala4Val | missense_variant | Exon 2 of 6 | 1 | ENSP00000442357.1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247550Hom.: 0 AF XY: 0.00000748 AC XY: 1AN XY: 133752
GnomAD4 exome AF: 0.00000549 AC: 8AN: 1457930Hom.: 0 Cov.: 30 AF XY: 0.00000552 AC XY: 4AN XY: 725082
GnomAD4 genome AF: 0.000105 AC: 16AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.11C>T (p.A4V) alteration is located in exon 3 (coding exon 1) of the FHL5 gene. This alteration results from a C to T substitution at nucleotide position 11, causing the alanine (A) at amino acid position 4 to be replaced by a valine (V). 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