2-208142657-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_005210.4(CRYGB):c.509G>A(p.Arg170Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000447 in 1,545,194 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 Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRYGB | NM_005210.4 | c.509G>A | p.Arg170Gln | missense_variant | Exon 3 of 3 | ENST00000260988.5 | NP_005201.2 | |
CRYGB | XM_017003402.2 | c.515G>A | p.Arg172Gln | missense_variant | Exon 3 of 3 | XP_016858891.1 | ||
LOC100507443 | NR_038437.1 | n.221+5478C>T | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000406 AC: 8AN: 197258Hom.: 0 AF XY: 0.0000564 AC XY: 6AN XY: 106374
GnomAD4 exome AF: 0.0000474 AC: 66AN: 1393008Hom.: 0 Cov.: 29 AF XY: 0.0000450 AC XY: 31AN XY: 688238
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.509G>A (p.R170Q) alteration is located in exon 3 (coding exon 3) of the CRYGB gene. This alteration results from a G to A substitution at nucleotide position 509, causing the arginine (R) at amino acid position 170 to be replaced by a glutamine (Q). 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