chrX-18757640-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001377996.1(PPEF1):āc.410A>Gā(p.His137Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000307 in 1,203,453 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 11 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001377996.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPEF1 | NM_001377996.1 | c.410A>G | p.His137Arg | missense_variant | 5/16 | ENST00000470157.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPEF1 | ENST00000470157.2 | c.410A>G | p.His137Arg | missense_variant | 5/16 | 3 | NM_001377996.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000268 AC: 3AN: 111794Hom.: 0 Cov.: 22 AF XY: 0.0000588 AC XY: 2AN XY: 33992
GnomAD3 exomes AF: 0.0000385 AC: 7AN: 181594Hom.: 0 AF XY: 0.0000151 AC XY: 1AN XY: 66144
GnomAD4 exome AF: 0.0000311 AC: 34AN: 1091659Hom.: 0 Cov.: 27 AF XY: 0.0000252 AC XY: 9AN XY: 357381
GnomAD4 genome AF: 0.0000268 AC: 3AN: 111794Hom.: 0 Cov.: 22 AF XY: 0.0000588 AC XY: 2AN XY: 33992
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at