chr10-68285357-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022129.4(PBLD):c.745G>C(p.Glu249Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000483 in 1,613,976 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022129.4 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 |
---|---|---|---|---|---|---|---|---|
PBLD | NM_022129.4 | c.745G>C | p.Glu249Gln | missense_variant | Exon 9 of 10 | ENST00000358769.7 | NP_071412.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000997 AC: 25AN: 250856Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135678
GnomAD4 exome AF: 0.0000472 AC: 69AN: 1461734Hom.: 0 Cov.: 31 AF XY: 0.0000454 AC XY: 33AN XY: 727174
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.745G>C (p.E249Q) alteration is located in exon 9 (coding exon 8) of the PBLD gene. This alteration results from a G to C substitution at nucleotide position 745, causing the glutamic acid (E) at amino acid position 249 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at