chr11-799414-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_145886.4(PIDD1):c.2626G>A(p.Gly876Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000515 in 1,611,574 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145886.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000284 AC: 7AN: 246370Hom.: 0 AF XY: 0.0000373 AC XY: 5AN XY: 134136
GnomAD4 exome AF: 0.0000541 AC: 79AN: 1459364Hom.: 0 Cov.: 31 AF XY: 0.0000482 AC XY: 35AN XY: 726082
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74358
ClinVar
Submissions by phenotype
not provided Uncertain:1
In silico analysis supports that this missense variant does not alter protein structure/function; Functional studies suggest that this variant does not impact PIDD1 function (Sheikh et al., 2021); This variant is associated with the following publications: (PMID: 33414379) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at