6-106512924-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001371242.2(CRYBG1):c.1807C>G(p.Arg603Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,608,048 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001371242.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRYBG1 | NM_001371242.2 | c.1807C>G | p.Arg603Gly | missense_variant | Exon 3 of 22 | ENST00000633556.3 | NP_001358171.1 | |
CRYBG1 | NM_001624.4 | c.583C>G | p.Arg195Gly | missense_variant | Exon 1 of 20 | NP_001615.2 | ||
CRYBG1 | XM_047418270.1 | c.1885C>G | p.Arg629Gly | missense_variant | Exon 4 of 23 | XP_047274226.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRYBG1 | ENST00000633556.3 | c.1807C>G | p.Arg603Gly | missense_variant | Exon 3 of 22 | 5 | NM_001371242.2 | ENSP00000488010.2 | ||
CRYBG1 | ENST00000651520.1 | c.1648C>G | p.Arg550Gly | missense_variant | Exon 2 of 2 | ENSP00000499126.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000427 AC: 1AN: 234100Hom.: 0 AF XY: 0.00000782 AC XY: 1AN XY: 127900
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1455704Hom.: 0 Cov.: 36 AF XY: 0.00000415 AC XY: 3AN XY: 723652
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152344Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.583C>G (p.R195G) alteration is located in exon 1 (coding exon 1) of the AIM1 gene. This alteration results from a C to G substitution at nucleotide position 583, causing the arginine (R) at amino acid position 195 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at