rs9608378
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004076.5(CRYBB3):c.337C>A(p.His113Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000197 in 151,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. 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. H113D) has been classified as Benign.
Frequency
Consequence
NM_004076.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYBB3 | NM_004076.5 | c.337C>A | p.His113Asn | missense_variant | 5/6 | ENST00000215855.7 | |
CRYBB3 | XM_047441147.1 | c.337C>A | p.His113Asn | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYBB3 | ENST00000215855.7 | c.337C>A | p.His113Asn | missense_variant | 5/6 | 1 | NM_004076.5 | P1 | |
CRYBB3 | ENST00000404334.1 | c.327+1334C>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 151912Hom.: 0 Cov.: 31
GnomAD4 exome Cov.: 66
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 151912Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74162
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at