chrX-47626062-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM5BP4_Moderate
The NM_001145252.3(CFP):āc.1240T>Cā(p.Tyr414His) variant causes a missense change. The variant allele was found at a frequency of 0.00000513 in 1,170,701 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. 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. Y414D) has been classified as Pathogenic.
Frequency
Consequence
NM_001145252.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFP | NM_001145252.3 | c.1240T>C | p.Tyr414His | missense_variant | 8/9 | ENST00000396992.8 | |
CFP | NM_002621.2 | c.1240T>C | p.Tyr414His | missense_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFP | ENST00000396992.8 | c.1240T>C | p.Tyr414His | missense_variant | 8/9 | 1 | NM_001145252.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000360 AC: 4AN: 111088Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33294
GnomAD4 exome AF: 0.00000189 AC: 2AN: 1059613Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 344781
GnomAD4 genome AF: 0.0000360 AC: 4AN: 111088Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at