chr5-14664840-T-A
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Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_138348.6(OTULIN):c.15T>A(p.Thr5=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: not found (cov: 34)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
OTULIN
NM_138348.6 synonymous
NM_138348.6 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.239
Genes affected
OTULIN (HGNC:25118): (OTU deubiquitinase with linear linkage specificity) This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.76).
BP6
Variant 5-14664840-T-A is Benign according to our data. Variant chr5-14664840-T-A is described in ClinVar as [Likely_benign]. Clinvar id is 2793171.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-0.239 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OTULIN | NM_138348.6 | c.15T>A | p.Thr5= | synonymous_variant | 1/7 | ENST00000284274.5 | NP_612357.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OTULIN | ENST00000284274.5 | c.15T>A | p.Thr5= | synonymous_variant | 1/7 | 1 | NM_138348.6 | ENSP00000284274 | P1 | |
OTULIN | ENST00000507335.1 | n.109T>A | non_coding_transcript_exon_variant | 1/2 | 2 | |||||
OTULIN | ENST00000697367.1 | c.15T>A | p.Thr5= | synonymous_variant, NMD_transcript_variant | 1/5 | ENSP00000513279 | ||||
OTULIN | ENST00000503023.2 | c.15T>A | p.Thr5= | synonymous_variant, NMD_transcript_variant | 1/6 | 5 | ENSP00000427016 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 genomes
Cov.:
34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1064124Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 505248
GnomAD4 exome
Data not reliable, filtered out with message: AC0
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0
AN:
1064124
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30
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0
AN XY:
505248
Gnomad4 AFR exome
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GnomAD4 genome Cov.: 34
GnomAD4 genome
Cov.:
34
ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 28, 2023 | - - |
Computational scores
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Name
Calibrated prediction
Score
Prediction
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
Publications
No publications associated with this variant yet.