rs783396
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001371242.2(CRYBG1):āc.4811A>Cā(p.Glu1604Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.93 in 1,613,588 control chromosomes in the GnomAD database, including 697,806 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001371242.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRYBG1 | NM_001371242.2 | c.4811A>C | p.Glu1604Ala | missense_variant | 9/22 | ENST00000633556.3 | |
CRYBG1 | NM_001624.4 | c.3587A>C | p.Glu1196Ala | missense_variant | 7/20 | ||
CRYBG1 | XM_047418270.1 | c.4889A>C | p.Glu1630Ala | missense_variant | 10/23 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRYBG1 | ENST00000633556.3 | c.4811A>C | p.Glu1604Ala | missense_variant | 9/22 | 5 | NM_001371242.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.930 AC: 141511AN: 152136Hom.: 65870 Cov.: 31
GnomAD3 exomes AF: 0.931 AC: 233875AN: 251108Hom.: 108967 AF XY: 0.933 AC XY: 126593AN XY: 135746
GnomAD4 exome AF: 0.930 AC: 1358777AN: 1461334Hom.: 631879 Cov.: 45 AF XY: 0.931 AC XY: 676654AN XY: 726978
GnomAD4 genome AF: 0.930 AC: 141627AN: 152254Hom.: 65927 Cov.: 31 AF XY: 0.931 AC XY: 69288AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at