22-26623300-G-A
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 2P and 20B. PM1BP4_StrongBP6_Very_StrongBS1BS2
The NM_001886.3(CRYBA4):c.106G>A(p.Val36Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0207 in 1,614,012 control chromosomes in the GnomAD database, including 411 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. V36V) has been classified as Likely benign.
Frequency
Consequence
NM_001886.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYBA4 | NM_001886.3 | c.106G>A | p.Val36Met | missense_variant | 3/6 | ENST00000354760.4 | |
CRYBA4 | XM_006724140.4 | c.121G>A | p.Val41Met | missense_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYBA4 | ENST00000354760.4 | c.106G>A | p.Val36Met | missense_variant | 3/6 | 1 | NM_001886.3 | P1 | |
CRYBA4 | ENST00000466315.1 | n.55+665G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0166 AC: 2531AN: 152162Hom.: 27 Cov.: 32
GnomAD3 exomes AF: 0.0174 AC: 4372AN: 251340Hom.: 60 AF XY: 0.0180 AC XY: 2441AN XY: 135848
GnomAD4 exome AF: 0.0212 AC: 30922AN: 1461734Hom.: 384 Cov.: 32 AF XY: 0.0208 AC XY: 15138AN XY: 727190
GnomAD4 genome AF: 0.0166 AC: 2532AN: 152278Hom.: 27 Cov.: 32 AF XY: 0.0164 AC XY: 1220AN XY: 74456
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Cataract 23 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 22, 2024 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 22, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at