5-134959056-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_032151.5(PCBD2):c.233C>T(p.Ser78Phe) variant causes a missense 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. 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. S78C) has been classified as Uncertain significance.
Frequency
Consequence
NM_032151.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PCBD2 | ENST00000254908.11 | c.233C>T | p.Ser78Phe | missense_variant | Exon 3 of 4 | 1 | NM_032151.5 | ENSP00000254908.6 | ||
PCBD2 | ENST00000512783.5 | c.233C>T | p.Ser78Phe | missense_variant | Exon 3 of 5 | 1 | ENSP00000421544.1 | |||
PCBD2 | ENST00000504352.1 | n.200C>T | non_coding_transcript_exon_variant | Exon 3 of 8 | 5 | ENSP00000426161.1 | ||||
PCBD2 | ENST00000510013.1 | n.322C>T | non_coding_transcript_exon_variant | Exon 3 of 3 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at