11-104890379-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000375726.6(CASP12):c.812C>T(p.Thr271Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000587 in 1,533,234 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000375726.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CASP12 | ENST00000613512.4 | c.812C>T | p.Thr271Ile | missense_variant | Exon 5 of 8 | 1 | ENSP00000482745.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151968Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000290 AC: 4AN: 1381148Hom.: 0 Cov.: 31 AF XY: 0.00000440 AC XY: 3AN XY: 681694
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152086Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.812C>T (p.T271I) alteration is located in exon 5 (coding exon 5) of the CASP12 gene. This alteration results from a C to T substitution at nucleotide position 812, causing the threonine (T) at amino acid position 271 to be replaced by an isoleucine (I). 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