11-104948538-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001225.4(CASP4):c.920C>T(p.Thr307Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000661 in 1,603,282 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001225.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CASP4 | NM_001225.4 | c.920C>T | p.Thr307Met | missense_variant | Exon 6 of 9 | ENST00000444739.7 | NP_001216.1 | |
CASP4 | NM_033306.3 | c.752C>T | p.Thr251Met | missense_variant | Exon 7 of 10 | NP_150649.1 | ||
CASP4 | XM_011543019.2 | c.647C>T | p.Thr216Met | missense_variant | Exon 5 of 8 | XP_011541321.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152180Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000685 AC: 17AN: 248168Hom.: 0 AF XY: 0.0000596 AC XY: 8AN XY: 134142
GnomAD4 exome AF: 0.0000682 AC: 99AN: 1451102Hom.: 0 Cov.: 29 AF XY: 0.0000624 AC XY: 45AN XY: 721070
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152180Hom.: 1 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.920C>T (p.T307M) alteration is located in exon 6 (coding exon 6) of the CASP4 gene. This alteration results from a C to T substitution at nucleotide position 920, causing the threonine (T) at amino acid position 307 to be replaced by a methionine (M). 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