chr15-43753815-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_005313.5(PDIA3):c.168-9C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00225 in 1,596,862 control chromosomes in the GnomAD database, including 85 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_005313.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0121 AC: 1842AN: 152038Hom.: 35 Cov.: 31
GnomAD3 exomes AF: 0.00317 AC: 783AN: 247232Hom.: 19 AF XY: 0.00231 AC XY: 309AN XY: 133494
GnomAD4 exome AF: 0.00119 AC: 1726AN: 1444706Hom.: 47 Cov.: 27 AF XY: 0.00105 AC XY: 753AN XY: 719480
GnomAD4 genome AF: 0.0123 AC: 1865AN: 152156Hom.: 38 Cov.: 31 AF XY: 0.0121 AC XY: 898AN XY: 74386
ClinVar
Submissions by phenotype
PDIA3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at