X-69162479-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001032396.4(PJA1):c.595C>A(p.Pro199Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000364 in 1,098,220 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001032396.4 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 |
---|---|---|---|---|---|---|---|
PJA1 | NM_001032396.4 | c.595C>A | p.Pro199Thr | missense_variant | 2/2 | ENST00000374571.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PJA1 | ENST00000374571.5 | c.595C>A | p.Pro199Thr | missense_variant | 2/2 | 1 | NM_001032396.4 | P2 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.0000218 AC: 4AN: 183394Hom.: 0 AF XY: 0.0000147 AC XY: 1AN XY: 67836
GnomAD4 exome AF: 0.00000364 AC: 4AN: 1098220Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 1AN XY: 363578
GnomAD4 genome Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at