2-163609781-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018086.4(FIGN):c.2051G>A(p.Arg684His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,614,116 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018086.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FIGN | NM_018086.4 | c.2051G>A | p.Arg684His | missense_variant | Exon 3 of 3 | ENST00000333129.4 | NP_060556.2 | |
FIGN | NM_001321825.2 | c.2018G>A | p.Arg673His | missense_variant | Exon 2 of 2 | NP_001308754.1 | ||
FIGN | XM_047444863.1 | c.2129G>A | p.Arg710His | missense_variant | Exon 3 of 3 | XP_047300819.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249094Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135122
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461852Hom.: 0 Cov.: 37 AF XY: 0.0000316 AC XY: 23AN XY: 727230
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74434
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2051G>A (p.R684H) alteration is located in exon 3 (coding exon 2) of the FIGN gene. This alteration results from a G to A substitution at nucleotide position 2051, causing the arginine (R) at amino acid position 684 to be replaced by a histidine (H). 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