19-4685765-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_139159.5(DPP9):c.1892C>T(p.Pro631Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,588 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_139159.5 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: 0.00000405 AC: 1AN: 246816Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134384
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460588Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726470
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1892C>T (p.P631L) alteration is located in exon 17 (coding exon 15) of the DPP9 gene. This alteration results from a C to T substitution at nucleotide position 1892, causing the proline (P) at amino acid position 631 to be replaced by a leucine (L). 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