11-49156734-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_004476.3(FOLH1):c.1606C>T(p.Arg536Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,612,372 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R536Q) has been classified 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOLH1 | NM_004476.3 | c.1606C>T | p.Arg536Trp | missense_variant | 15/19 | ENST00000256999.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOLH1 | ENST00000256999.7 | c.1606C>T | p.Arg536Trp | missense_variant | 15/19 | 1 | NM_004476.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151790Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000399 AC: 10AN: 250420Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135368
GnomAD4 exome AF: 0.0000288 AC: 42AN: 1460582Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 726634
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151790Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74100
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 21, 2023 | The c.1606C>T (p.R536W) alteration is located in exon 15 (coding exon 15) of the FOLH1 gene. This alteration results from a C to T substitution at nucleotide position 1606, causing the arginine (R) at amino acid position 536 to be replaced by a tryptophan (W). 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