11-49169228-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004476.3(FOLH1):c.1339G>A(p.Val447Met) variant causes a missense change. The variant allele was found at a frequency of 0.000218 in 1,613,110 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004476.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000124 AC: 31AN: 250886Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135584
GnomAD4 exome AF: 0.000225 AC: 328AN: 1461002Hom.: 0 Cov.: 30 AF XY: 0.000210 AC XY: 153AN XY: 726846
GnomAD4 genome AF: 0.000158 AC: 24AN: 152108Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1339G>A (p.V447M) alteration is located in exon 12 (coding exon 12) of the FOLH1 gene. This alteration results from a G to A substitution at nucleotide position 1339, causing the valine (V) at amino acid position 447 to be replaced by a methionine (M). 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