rs17670506
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 2P and 20B. PM1BP4_StrongBP6_Very_StrongBA1
The NM_004076.5(CRYBB3):c.314G>A(p.Arg105Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0484 in 1,614,036 control chromosomes in the GnomAD database, including 2,226 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004076.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0447 AC: 6802AN: 152112Hom.: 192 Cov.: 32
GnomAD3 exomes AF: 0.0429 AC: 10794AN: 251470Hom.: 282 AF XY: 0.0433 AC XY: 5884AN XY: 135910
GnomAD4 exome AF: 0.0488 AC: 71299AN: 1461806Hom.: 2034 Cov.: 32 AF XY: 0.0485 AC XY: 35253AN XY: 727212
GnomAD4 genome AF: 0.0447 AC: 6798AN: 152230Hom.: 192 Cov.: 32 AF XY: 0.0442 AC XY: 3291AN XY: 74438
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 27307692) -
not specified Benign:1
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Congenital nuclear cataract Benign:1
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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