chr17-45113010-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_133373.5(PLCD3):c.2134T>C(p.Phe712Leu) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_133373.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLCD3 | NM_133373.5 | c.2134T>C | p.Phe712Leu | missense_variant, splice_region_variant | 14/15 | ENST00000619929.5 | |
PLCD3 | XM_024450554.2 | c.2269T>C | p.Phe757Leu | missense_variant, splice_region_variant | 14/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLCD3 | ENST00000619929.5 | c.2134T>C | p.Phe712Leu | missense_variant, splice_region_variant | 14/15 | 1 | NM_133373.5 | P1 | |
PLCD3 | ENST00000539433.1 | c.246+112T>C | intron_variant | 3 | |||||
PLCD3 | ENST00000543623.5 | n.441T>C | splice_region_variant, non_coding_transcript_exon_variant | 5/6 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.