chr7-154052966-AGGCGGCGGCGCCCCGGGAGCGCGGCGGC-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The NM_130797.4(DPP6):c.157_184del(p.Pro53AlafsTer35) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 968,078 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_130797.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DPP6 | NM_130797.4 | c.157_184del | p.Pro53AlafsTer35 | frameshift_variant | 1/26 | ENST00000377770.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DPP6 | ENST00000377770.8 | c.157_184del | p.Pro53AlafsTer35 | frameshift_variant | 1/26 | 1 | NM_130797.4 | ||
DPP6 | ENST00000406326.5 | c.157_184del | p.Pro53AlafsTer35 | frameshift_variant | 1/6 | 1 | |||
DPP6 | ENST00000404039.5 | c.51+165243_51+165270del | intron_variant | 1 | |||||
DPP6 | ENST00000706130.1 | c.60+303969_60+303996del | intron_variant |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000310 AC: 3AN: 968078Hom.: 0 AF XY: 0.00000655 AC XY: 3AN XY: 458046
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
See cases Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Center for Personalized Medicine, Children's Hospital Los Angeles | Dec 21, 2022 | - - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | AiLife Diagnostics, AiLife Diagnostics | Dec 03, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.