11-49146925-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004476.3(FOLH1):c.2084G>A(p.Ser695Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000298 in 1,612,078 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152074Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1460004Hom.: 0 Cov.: 31 AF XY: 0.0000317 AC XY: 23AN XY: 726294
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152074Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2084G>A (p.S695N) 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 2084, causing the serine (S) at amino acid position 695 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