chr14-20770581-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022360.5(EDDM3B):c.431C>T(p.Pro144Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict 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. P144R) has been classified as Uncertain significance.
Frequency
Consequence
NM_022360.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EDDM3B | NM_022360.5 | c.431C>T | p.Pro144Leu | missense_variant | Exon 2 of 2 | ENST00000326783.4 | NP_071755.1 | |
LOC107984671 | XR_001750622.2 | n.627-7738G>A | intron_variant | Intron 1 of 2 | ||||
LOC107984671 | XR_001750623.2 | n.627-7738G>A | intron_variant | Intron 1 of 3 | ||||
LOC107984671 | XR_001750624.2 | n.627-7738G>A | intron_variant | Intron 1 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247452Hom.: 0 AF XY: 0.00000748 AC XY: 1AN XY: 133718
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at