rs387907337
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM2PM5PP3_StrongPP5
The NM_001289808.2(CRYAB):c.58C>T(p.Pro20Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P20R) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001289808.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYAB | NM_001289808.2 | c.58C>T | p.Pro20Ser | missense_variant | 1/3 | ENST00000650687.2 | |
CRYAB | NM_001289807.1 | c.58C>T | p.Pro20Ser | missense_variant | 2/4 | ||
CRYAB | NM_001368245.1 | c.58C>T | p.Pro20Ser | missense_variant | 2/4 | ||
CRYAB | NM_001885.3 | c.58C>T | p.Pro20Ser | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYAB | ENST00000650687.2 | c.58C>T | p.Pro20Ser | missense_variant | 1/3 | NM_001289808.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Cataract 16 multiple types Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 01, 2006 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at