11-49146902-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004476.3(FOLH1):c.2107G>A(p.Glu703Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250380Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135312
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460892Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726760
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2107G>A (p.E703K) alteration is located in exon 19 (coding exon 19) of the FOLH1 gene. This alteration results from a G to A substitution at nucleotide position 2107, causing the glutamic acid (E) at amino acid position 703 to be replaced by a lysine (K). 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