rs768758510
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001131.3(CRISP1):āc.712T>Gā(p.Cys238Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,532 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. C238S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001131.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRISP1 | NM_001131.3 | c.712T>G | p.Cys238Gly | missense_variant | Exon 8 of 8 | ENST00000335847.9 | NP_001122.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRISP1 | ENST00000335847.9 | c.712T>G | p.Cys238Gly | missense_variant | Exon 8 of 8 | 1 | NM_001131.3 | ENSP00000338276.4 | ||
CRISP1 | ENST00000505118.1 | c.712T>G | p.Cys238Gly | missense_variant | Exon 8 of 8 | 1 | ENSP00000427589.1 | |||
CRISP1 | ENST00000507853 | c.*86T>G | 3_prime_UTR_variant | Exon 7 of 7 | 1 | ENSP00000425020.1 | ||||
CRISP1 | ENST00000329411 | c.*86T>G | 3_prime_UTR_variant | Exon 6 of 6 | 5 | ENSP00000331317.5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251294Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135808
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461532Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727080
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at