rs75297921
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001034842.5(PTCHD3):c.923delG(p.Gly308fs) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,613,698 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001034842.5 frameshift
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTCHD3 | NM_001034842.5 | c.923delG | p.Gly308fs | frameshift_variant | 1/4 | NP_001030014.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTCHD3 | ENST00000642324.1 | c.923delG | p.Gly308fs | frameshift_variant | 1/4 | ENSP00000495205.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151886Hom.: 0 Cov.: 0
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251296Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135840
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461812Hom.: 0 Cov.: 61 AF XY: 0.00000550 AC XY: 4AN XY: 727206
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151886Hom.: 0 Cov.: 0 AF XY: 0.0000270 AC XY: 2AN XY: 74200
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at