chr2-219539616-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024536.6(CHPF):c.2095G>T(p.Glu699*) variant causes a stop gained change. The variant allele was found at a frequency of 0.00000656 in 152,364 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. Synonymous variant affecting the same amino acid position (i.e. E699E) has been classified as Benign.
Frequency
Consequence
NM_024536.6 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 |
---|---|---|---|---|---|---|---|---|
CHPF | NM_024536.6 | c.2095G>T | p.Glu699* | stop_gained | Exon 4 of 4 | ENST00000243776.11 | NP_078812.3 | |
CHPF | NM_001195731.2 | c.1609G>T | p.Glu537* | stop_gained | Exon 4 of 4 | NP_001182660.2 | ||
CHPF | XM_011511838.4 | c.1222G>T | p.Glu408* | stop_gained | Exon 3 of 3 | XP_011510140.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152248Hom.: 0 Cov.: 34
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152364Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74512
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at