7-154052947-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_130797.4(DPP6):c.127C>G(p.Pro43Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000156 in 1,088,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_130797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DPP6 | NM_130797.4 | c.127C>G | p.Pro43Ala | missense_variant | 1/26 | ENST00000377770.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DPP6 | ENST00000377770.8 | c.127C>G | p.Pro43Ala | missense_variant | 1/26 | 1 | NM_130797.4 | ||
DPP6 | ENST00000406326.5 | c.127C>G | p.Pro43Ala | missense_variant | 1/6 | 1 | |||
DPP6 | ENST00000404039.5 | c.51+165213C>G | intron_variant | 1 | |||||
DPP6 | ENST00000706130.1 | c.60+303939C>G | intron_variant |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.0000193 AC: 1AN: 51846Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 30932
GnomAD4 exome AF: 0.0000156 AC: 17AN: 1088254Hom.: 0 Cov.: 39 AF XY: 0.0000152 AC XY: 8AN XY: 525706
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at