2-163609662-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_018086.4(FIGN):c.2170G>A(p.Val724Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000133 in 1,614,002 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FIGN | NM_018086.4 | c.2170G>A | p.Val724Ile | missense_variant | Exon 3 of 3 | ENST00000333129.4 | NP_060556.2 | |
FIGN | NM_001321825.2 | c.2137G>A | p.Val713Ile | missense_variant | Exon 2 of 2 | NP_001308754.1 | ||
FIGN | XM_047444863.1 | c.2248G>A | p.Val750Ile | missense_variant | Exon 3 of 3 | XP_047300819.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152028Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000217 AC: 54AN: 249126Hom.: 0 AF XY: 0.000170 AC XY: 23AN XY: 135136
GnomAD4 exome AF: 0.000118 AC: 172AN: 1461856Hom.: 2 Cov.: 38 AF XY: 0.0000908 AC XY: 66AN XY: 727230
GnomAD4 genome AF: 0.000276 AC: 42AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2170G>A (p.V724I) 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 2170, causing the valine (V) at amino acid position 724 to be replaced by an isoleucine (I). 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