ENST00000375726.6:c.1007A>G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The ENST00000375726.6(CASP12):c.1007A>G(p.Tyr336Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000145 in 1,376,556 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000375726.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CASP12 | NR_034061.4 | n.1053A>G | non_coding_transcript_exon_variant | Exon 7 of 8 | ||||
CASP12 | NR_034063.4 | n.943A>G | non_coding_transcript_exon_variant | Exon 6 of 7 | ||||
CASP12 | NR_034064.4 | n.915A>G | non_coding_transcript_exon_variant | Exon 6 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CASP12 | ENST00000613512.4 | c.1007A>G | p.Tyr336Cys | missense_variant | Exon 7 of 8 | 1 | ENSP00000482745.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000145 AC: 2AN: 1376556Hom.: 0 Cov.: 29 AF XY: 0.00000147 AC XY: 1AN XY: 679534
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1007A>G (p.Y336C) alteration is located in exon 7 (coding exon 7) of the CASP12 gene. This alteration results from a A to G substitution at nucleotide position 1007, causing the tyrosine (Y) at amino acid position 336 to be replaced by a cysteine (C). 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