chr6-28297899-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032507.4(PGBD1):āc.777A>Cā(p.Glu259Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000159 in 1,256,704 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032507.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PGBD1 | NM_032507.4 | c.777A>C | p.Glu259Asp | missense_variant | 6/7 | ENST00000682144.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PGBD1 | ENST00000682144.1 | c.777A>C | p.Glu259Asp | missense_variant | 6/7 | NM_032507.4 | P1 | ||
PGBD1 | ENST00000259883.3 | c.777A>C | p.Glu259Asp | missense_variant | 6/7 | 1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome AF: 0.00000159 AC: 2AN: 1256704Hom.: 0 Cov.: 27 AF XY: 0.00000318 AC XY: 2AN XY: 628734
GnomAD4 genome Cov.: 29
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.