chr22-26607993-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001887.4(CRYBB1):c.328C>G(p.Arg110Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R110C) has been classified as Benign.
Frequency
Consequence
NM_001887.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYBB1 | NM_001887.4 | c.328C>G | p.Arg110Gly | missense_variant | 4/6 | ENST00000647684.1 | |
CRYBB1 | XM_011529899.4 | c.328C>G | p.Arg110Gly | missense_variant | 4/6 | ||
CRYBA4 | XM_006724140.4 | c.-67G>C | 5_prime_UTR_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYBB1 | ENST00000647684.1 | c.328C>G | p.Arg110Gly | missense_variant | 4/6 | NM_001887.4 | P1 | ||
ENST00000668614.1 | n.228G>C | non_coding_transcript_exon_variant | 2/3 | ||||||
CRYBB1 | ENST00000647569.1 | n.140C>G | non_coding_transcript_exon_variant | 2/3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at