2-208128311-GTAGTTG-TCTACGAGGGTATTGCCCCGTCTACGAGGTATTGCCCGTCTACGAGGGTATTGCCCCGTCTACGA
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PVS1_StrongPM2PP5_Moderate
The NM_020989.4(CRYGC):c.411_417delCAACTACinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA(p.Asn138ArgfsTer21) variant causes a frameshift, stop gained, missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely pathogenic (★).
Frequency
Consequence
NM_020989.4 frameshift, stop_gained, missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRYGC | NM_020989.4 | c.411_417delCAACTACinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA | p.Asn138ArgfsTer21 | frameshift_variant, stop_gained, missense_variant | Exon 3 of 3 | ENST00000282141.4 | NP_066269.1 | |
LOC100507443 | NR_038437.1 | n.98-8745_98-8739delGTAGTTGinsTCTACGAGGGTATTGCCCCGTCTACGAGGTATTGCCCGTCTACGAGGGTATTGCCCCGTCTACGA | intron_variant | Intron 1 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRYGC | ENST00000282141.4 | c.411_417delCAACTACinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA | p.Asn138ArgfsTer21 | frameshift_variant, stop_gained, missense_variant | Exon 3 of 3 | 1 | NM_020989.4 | ENSP00000282141.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Nuclear pulverulent cataract Pathogenic:1
This premature translational stop signal has been observed in individual(s) with congenital cataracts (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn138Argfs*21) in the CRYGC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the CRYGC protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.