2-208142864-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_005210.4(CRYGB):c.302G>T(p.Gly101Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000479 in 1,461,246 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 (★).
Frequency
Consequence
NM_005210.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRYGB | NM_005210.4 | c.302G>T | p.Gly101Val | missense_variant | Exon 3 of 3 | ENST00000260988.5 | NP_005201.2 | |
CRYGB | XM_017003402.2 | c.308G>T | p.Gly103Val | missense_variant | Exon 3 of 3 | XP_016858891.1 | ||
LOC100507443 | NR_038437.1 | n.221+5685C>A | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249216Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134738
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461246Hom.: 0 Cov.: 33 AF XY: 0.00000550 AC XY: 4AN XY: 726916
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Cataract 39 multiple types Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CRYGB-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 101 of the CRYGB protein (p.Gly101Val). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at