4-1025103-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001004356.3(FGFRL1):c.1271G>T(p.Arg424Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0216 in 1,610,698 control chromosomes in the GnomAD database, including 486 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001004356.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FGFRL1 | ENST00000510644.6 | c.1271G>T | p.Arg424Leu | missense_variant | Exon 7 of 7 | 1 | NM_001004356.3 | ENSP00000425025.1 | ||
FGFRL1 | ENST00000264748.6 | c.1271G>T | p.Arg424Leu | missense_variant | Exon 6 of 6 | 1 | ENSP00000264748.6 | |||
FGFRL1 | ENST00000504138.5 | c.1271G>T | p.Arg424Leu | missense_variant | Exon 7 of 7 | 1 | ENSP00000423091.1 | |||
FGFRL1 | ENST00000398484.6 | c.1271G>T | p.Arg424Leu | missense_variant | Exon 8 of 8 | 5 | ENSP00000381498.2 |
Frequencies
GnomAD3 genomes AF: 0.0175 AC: 2656AN: 152156Hom.: 31 Cov.: 34
GnomAD3 exomes AF: 0.0183 AC: 4338AN: 236502Hom.: 65 AF XY: 0.0186 AC XY: 2420AN XY: 129858
GnomAD4 exome AF: 0.0221 AC: 32167AN: 1458424Hom.: 455 Cov.: 38 AF XY: 0.0216 AC XY: 15670AN XY: 725412
GnomAD4 genome AF: 0.0174 AC: 2656AN: 152274Hom.: 31 Cov.: 34 AF XY: 0.0185 AC XY: 1377AN XY: 74460
ClinVar
Submissions by phenotype
not provided Benign:2
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FGFRL1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at