NM_001277074.2:c.286G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001277074.2(CCDC12):c.286G>T(p.Glu96*) variant causes a stop gained change. The variant allele was found at a frequency of 0.00000315 in 1,589,178 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. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001277074.2 stop_gained
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 |
---|---|---|---|---|---|---|---|---|
CCDC12 | NM_001277074.2 | c.286G>T | p.Glu96* | stop_gained | Exon 4 of 7 | ENST00000683445.1 | NP_001264003.1 | |
CCDC12 | NM_144716.6 | c.325G>T | p.Glu109* | stop_gained | Exon 5 of 8 | NP_653317.2 | ||
CCDC12 | NR_102269.2 | n.339G>T | non_coding_transcript_exon_variant | Exon 4 of 7 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000278 AC: 4AN: 1436976Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 713002
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at