19-10107977-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020230.7(PPAN):c.356G>A(p.Arg119His) variant causes a missense change. The variant allele was found at a frequency of 0.0000603 in 1,608,426 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020230.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PPAN | ENST00000253107.12 | c.356G>A | p.Arg119His | missense_variant | Exon 5 of 12 | 1 | NM_020230.7 | ENSP00000253107.7 | ||
PPAN-P2RY11 | ENST00000393796.4 | c.356G>A | p.Arg119His | missense_variant | Exon 5 of 13 | 1 | ENSP00000377385.4 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000947 AC: 23AN: 242772Hom.: 0 AF XY: 0.0000990 AC XY: 13AN XY: 131316
GnomAD4 exome AF: 0.0000604 AC: 88AN: 1456104Hom.: 0 Cov.: 33 AF XY: 0.0000539 AC XY: 39AN XY: 724012
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.356G>A (p.R119H) alteration is located in exon 5 (coding exon 5) of the PPAN gene. This alteration results from a G to A substitution at nucleotide position 356, causing the arginine (R) at amino acid position 119 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at