11-49156733-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_004476.3(FOLH1):c.1607G>A(p.Arg536Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,460,542 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R536W) has been classified as Uncertain significance.
Frequency
Consequence
NM_004476.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOLH1 | NM_004476.3 | c.1607G>A | p.Arg536Gln | missense_variant | 15/19 | ENST00000256999.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOLH1 | ENST00000256999.7 | c.1607G>A | p.Arg536Gln | missense_variant | 15/19 | 1 | NM_004476.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250390Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135366
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460542Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726620
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 14, 2021 | The c.1607G>A (p.R536Q) alteration is located in exon 15 (coding exon 15) of the FOLH1 gene. This alteration results from a G to A substitution at nucleotide position 1607, causing the arginine (R) at amino acid position 536 to be replaced by a glutamine (Q). 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