rs2330992
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM1PP5BP4BS2_Supporting
The NM_000496.3(CRYBB2):āc.440A>Gā(p.Gln147Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,614,138 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd as Likely pathogenic (no stars).
Frequency
Consequence
NM_000496.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYBB2 | NM_000496.3 | c.440A>G | p.Gln147Arg | missense_variant | 5/6 | ENST00000398215.3 | |
CRYBB2 | XM_006724141.4 | c.440A>G | p.Gln147Arg | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYBB2 | ENST00000398215.3 | c.440A>G | p.Gln147Arg | missense_variant | 5/6 | 1 | NM_000496.3 | P1 | |
CRYBB2 | ENST00000651629.1 | c.440A>G | p.Gln147Arg | missense_variant | 5/6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152282Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251402Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135900
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461856Hom.: 0 Cov.: 32 AF XY: 0.0000289 AC XY: 21AN XY: 727224
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152282Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74400
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at