17-29249185-G-A
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_005208.5(CRYBA1):c.75G>A(p.Pro25Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000738 in 1,611,918 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_005208.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRYBA1 | ENST00000225387.8 | c.75G>A | p.Pro25Pro | synonymous_variant | Exon 2 of 6 | 1 | NM_005208.5 | ENSP00000225387.3 | ||
CRYBA1 | ENST00000484605.1 | n.63G>A | non_coding_transcript_exon_variant | Exon 2 of 5 | 5 | ENSP00000464368.1 |
Frequencies
GnomAD3 genomes AF: 0.000375 AC: 57AN: 151868Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 251262Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135832
GnomAD4 exome AF: 0.0000425 AC: 62AN: 1460050Hom.: 0 Cov.: 29 AF XY: 0.0000427 AC XY: 31AN XY: 726476
GnomAD4 genome AF: 0.000375 AC: 57AN: 151868Hom.: 0 Cov.: 31 AF XY: 0.000364 AC XY: 27AN XY: 74174
ClinVar
Submissions by phenotype
CRYBA1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Cataract 10 multiple types Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at