rs2788
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005313.5(PDIA3):c.*1470A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.161 in 154,008 control chromosomes in the GnomAD database, including 2,622 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.16 ( 2614 hom., cov: 33)
Exomes 𝑓: 0.092 ( 8 hom. )
Consequence
PDIA3
NM_005313.5 3_prime_UTR
NM_005313.5 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.42
Genes affected
PDIA3 (HGNC:4606): (protein disulfide isomerase family A member 3) This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]
ELL3 (HGNC:23113): (elongation factor for RNA polymerase II 3) Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription, DNA-templated and transcription by RNA polymerase II. Located in several cellular components, including chromosome; cytosol; and nuclear lumen. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.8).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.285 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDIA3 | NM_005313.5 | c.*1470A>G | 3_prime_UTR_variant | 13/13 | ENST00000300289.10 | ||
ELL3 | NM_025165.3 | c.*428T>C | 3_prime_UTR_variant | 11/11 | ENST00000319359.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDIA3 | ENST00000300289.10 | c.*1470A>G | 3_prime_UTR_variant | 13/13 | 1 | NM_005313.5 | P3 | ||
ELL3 | ENST00000319359.8 | c.*428T>C | 3_prime_UTR_variant | 11/11 | 1 | NM_025165.3 | P1 | ||
PDIA3 | ENST00000686314.1 | c.*1470A>G | 3_prime_UTR_variant | 12/12 | |||||
ELL3 | ENST00000467869.5 | n.1686T>C | non_coding_transcript_exon_variant | 9/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.161 AC: 24563AN: 152170Hom.: 2606 Cov.: 33
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GnomAD4 exome AF: 0.0924 AC: 159AN: 1720Hom.: 8 Cov.: 0 AF XY: 0.0935 AC XY: 89AN XY: 952
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GnomAD4 genome ? AF: 0.162 AC: 24613AN: 152288Hom.: 2614 Cov.: 33 AF XY: 0.160 AC XY: 11897AN XY: 74478
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at