2-115739765-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_020868.6(DPP10):c.724C>A(p.His242Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,613,436 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020868.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152136Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250986Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135626
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1461182Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 8AN XY: 726904
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152254Hom.: 0 Cov.: 31 AF XY: 0.0000672 AC XY: 5AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.736C>A (p.H246N) alteration is located in exon 9 (coding exon 9) of the DPP10 gene. This alteration results from a C to A substitution at nucleotide position 736, causing the histidine (H) at amino acid position 246 to be replaced by an asparagine (N). 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