7-154052919-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_130797.4(DPP6):c.99C>T(p.Pro33Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000114 in 1,496,584 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P33P) has been classified as Likely benign.
Frequency
Consequence
NM_130797.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DPP6 | ENST00000377770.8 | c.99C>T | p.Pro33Pro | synonymous_variant | Exon 1 of 26 | 1 | NM_130797.4 | ENSP00000367001.3 | ||
DPP6 | ENST00000406326.5 | c.99C>T | p.Pro33Pro | synonymous_variant | Exon 1 of 6 | 1 | ENSP00000384393.1 | |||
DPP6 | ENST00000404039.5 | c.51+165185C>T | intron_variant | Intron 1 of 25 | 1 | ENSP00000385578.1 | ||||
DPP6 | ENST00000706130.1 | c.60+303911C>T | intron_variant | Intron 2 of 26 | ENSP00000516215.1 |
Frequencies
GnomAD3 genomes AF: 0.0000134 AC: 2AN: 149632Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000162 AC: 2AN: 123186Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67588
GnomAD4 exome AF: 0.0000111 AC: 15AN: 1346952Hom.: 0 Cov.: 44 AF XY: 0.0000105 AC XY: 7AN XY: 664780
GnomAD4 genome AF: 0.0000134 AC: 2AN: 149632Hom.: 0 Cov.: 31 AF XY: 0.0000274 AC XY: 2AN XY: 73006
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at