chr2-163609899-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018086.4(FIGN):c.1933A>G(p.Met645Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FIGN | NM_018086.4 | c.1933A>G | p.Met645Val | missense_variant | Exon 3 of 3 | ENST00000333129.4 | NP_060556.2 | |
FIGN | NM_001321825.2 | c.1900A>G | p.Met634Val | missense_variant | Exon 2 of 2 | NP_001308754.1 | ||
FIGN | XM_047444863.1 | c.2011A>G | p.Met671Val | missense_variant | Exon 3 of 3 | XP_047300819.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 37
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1933A>G (p.M645V) alteration is located in exon 3 (coding exon 2) of the FIGN gene. This alteration results from a A to G substitution at nucleotide position 1933, causing the methionine (M) at amino acid position 645 to be replaced by a valine (V). 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