1-13780865-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001393986.1(PRDM2):c.3070T>C(p.Ser1024Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1024T) has been classified as Likely benign.
Frequency
Consequence
NM_001393986.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRDM2 | NM_001393986.1 | c.3070T>C | p.Ser1024Pro | missense_variant | Exon 8 of 10 | ENST00000311066.10 | NP_001380915.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 53
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at