2-219539616-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024536.6(CHPF):c.2095G>A(p.Glu699Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000855 in 1,613,794 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E699Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_024536.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHPF | NM_024536.6 | c.2095G>A | p.Glu699Lys | missense_variant | Exon 4 of 4 | ENST00000243776.11 | NP_078812.3 | |
CHPF | NM_001195731.2 | c.1609G>A | p.Glu537Lys | missense_variant | Exon 4 of 4 | NP_001182660.2 | ||
CHPF | XM_011511838.4 | c.1222G>A | p.Glu408Lys | missense_variant | Exon 3 of 3 | XP_011510140.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152248Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000144 AC: 36AN: 249868Hom.: 1 AF XY: 0.000163 AC XY: 22AN XY: 135338
GnomAD4 exome AF: 0.0000828 AC: 121AN: 1461546Hom.: 1 Cov.: 30 AF XY: 0.000102 AC XY: 74AN XY: 727112
GnomAD4 genome AF: 0.000112 AC: 17AN: 152248Hom.: 0 Cov.: 34 AF XY: 0.0000807 AC XY: 6AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at