rs771834624
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005210.4(CRYGB):c.*10G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000763 in 1,310,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005210.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRYGB | NM_005210.4 | c.*10G>T | 3_prime_UTR_variant | Exon 3 of 3 | ENST00000260988.5 | NP_005201.2 | ||
CRYGB | XM_017003402.2 | c.*10G>T | 3_prime_UTR_variant | Exon 3 of 3 | XP_016858891.1 | |||
LOC100507443 | NR_038437.1 | n.221+5449C>A | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.63e-7 AC: 1AN: 1310832Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 639068
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.