chr11-49154441-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004476.3(FOLH1):c.1675T>A(p.Tyr559Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000559 in 1,610,154 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_004476.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151918Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000811 AC: 2AN: 246478Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133280
GnomAD4 exome AF: 0.00000549 AC: 8AN: 1458236Hom.: 0 Cov.: 30 AF XY: 0.00000690 AC XY: 5AN XY: 725030
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151918Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74214
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1675T>A (p.Y559N) alteration is located in exon 16 (coding exon 16) of the FOLH1 gene. This alteration results from a T to A substitution at nucleotide position 1675, causing the tyrosine (Y) at amino acid position 559 to be replaced by an asparagine (N). 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