14-67316891-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022474.4(PALS1):c.1285C>A(p.Pro429Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000298 in 1,610,406 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_022474.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249610Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134930
GnomAD4 exome AF: 0.0000309 AC: 45AN: 1458294Hom.: 0 Cov.: 30 AF XY: 0.0000414 AC XY: 30AN XY: 725430
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1285C>A (p.P429T) alteration is located in exon 10 (coding exon 8) of the MPP5 gene. This alteration results from a C to A substitution at nucleotide position 1285, causing the proline (P) at amino acid position 429 to be replaced by a threonine (T). 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