6-106104971-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001198.4(PRDM1):c.811A>G(p.Ile271Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000553 in 1,614,020 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0033 ( 1 hom., cov: 32)
Exomes 𝑓: 0.00027 ( 3 hom. )
Consequence
PRDM1
NM_001198.4 missense
NM_001198.4 missense
Scores
1
15
Clinical Significance
Conservation
PhyloP100: 2.13
Genes affected
PRDM1 (HGNC:9346): (PR/SET domain 1) This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
ATG5 (HGNC:589): (autophagy related 5) The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.00558421).
BP6
?
Variant 6-106104971-A-G is Benign according to our data. Variant chr6-106104971-A-G is described in ClinVar as [Benign]. Clinvar id is 135078.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
?
High AC in GnomAd at 498 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRDM1 | NM_001198.4 | c.811A>G | p.Ile271Val | missense_variant | 5/7 | ENST00000369096.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRDM1 | ENST00000369096.9 | c.811A>G | p.Ile271Val | missense_variant | 5/7 | 1 | NM_001198.4 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00328 AC: 498AN: 152012Hom.: 1 Cov.: 32
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GnomAD3 exomes AF: 0.000700 AC: 176AN: 251490Hom.: 1 AF XY: 0.000530 AC XY: 72AN XY: 135918
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GnomAD4 exome AF: 0.000270 AC: 395AN: 1461890Hom.: 3 Cov.: 32 AF XY: 0.000242 AC XY: 176AN XY: 727244
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GnomAD4 genome ? AF: 0.00327 AC: 497AN: 152130Hom.: 1 Cov.: 32 AF XY: 0.00315 AC XY: 234AN XY: 74372
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Asia WGS
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3478
ClinVar
Significance: Benign
Submissions summary: Benign:1Other:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
not specified Other:1
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Uncertain
D
LIST_S2
Benign
T;T;T;T;T
MetaRNN
Benign
T;T;T;T;T
MetaSVM
Benign
T
MutationTaster
Benign
D;D;D
PrimateAI
Benign
T
PROVEAN
Benign
N;N;.;N;N
REVEL
Benign
Sift
Benign
T;T;.;T;T
Sift4G
Benign
T;T;.;T;T
Polyphen
0.087
.;B;.;.;.
Vest4
MVP
MPC
0.32
ClinPred
T
GERP RS
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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