chr4-168915900-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001166108.2(PALLD):c.2723G>A(p.Arg908His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000781 in 1,612,730 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001166108.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000132 AC: 20AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000247 AC: 62AN: 251222Hom.: 0 AF XY: 0.000243 AC XY: 33AN XY: 135762
GnomAD4 exome AF: 0.0000726 AC: 106AN: 1460530Hom.: 0 Cov.: 29 AF XY: 0.0000702 AC XY: 51AN XY: 726692
GnomAD4 genome AF: 0.000131 AC: 20AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The p.R891H variant (also known as c.2672G>A), located in coding exon 15 of the PALLD gene, results from a G to A substitution at nucleotide position 2672. The arginine at codon 891 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Pancreatic adenocarcinoma Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at