10-70204902-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021129.4(PPA1):c.809G>A(p.Cys270Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000416 in 1,443,426 control chromosomes in the GnomAD database, with no homozygous occurrence. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021129.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247736Hom.: 0 AF XY: 0.00000746 AC XY: 1AN XY: 134042
GnomAD4 exome AF: 0.00000416 AC: 6AN: 1443426Hom.: 0 Cov.: 28 AF XY: 0.00000557 AC XY: 4AN XY: 718316
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.809G>A (p.C270Y) alteration is located in exon 10 (coding exon 10) of the PPA1 gene. This alteration results from a G to A substitution at nucleotide position 809, causing the cysteine (C) at amino acid position 270 to be replaced by a tyrosine (Y). 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