rs147831812
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM1BP4_StrongBP6BS2
The NM_004076.5(CRYBB3):āc.38C>Gā(p.Ala13Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00576 in 1,613,456 control chromosomes in the GnomAD database, including 42 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_004076.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00390 AC: 594AN: 152144Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00452 AC: 1137AN: 251342Hom.: 11 AF XY: 0.00465 AC XY: 632AN XY: 135884
GnomAD4 exome AF: 0.00595 AC: 8701AN: 1461194Hom.: 39 Cov.: 34 AF XY: 0.00593 AC XY: 4311AN XY: 726880
GnomAD4 genome AF: 0.00389 AC: 593AN: 152262Hom.: 3 Cov.: 32 AF XY: 0.00357 AC XY: 266AN XY: 74444
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.38C>G (p.A13G) alteration is located in exon 2 (coding exon 1) of the CRYBB3 gene. This alteration results from a C to G substitution at nucleotide position 38, causing the alanine (A) at amino acid position 13 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Congenital nuclear cataract Uncertain:1
- -
not provided Benign:1
CRYBB3: BP4, BS2 -
Cataract 22 multiple types Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at