chr15-72474873-T-TGGCGGCGGCGGCGGCGGCGGC
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Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005744.5(ARIH1):c.237_257dupCGGCGGCGGCGGCGGCGGCGG(p.Gly80_Gly86dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000668 in 149,696 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000067 ( 0 hom., cov: 32)
Consequence
ARIH1
NM_005744.5 disruptive_inframe_insertion
NM_005744.5 disruptive_inframe_insertion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.74
Genes affected
ARIH1 (HGNC:689): (ariadne RBR E3 ubiquitin protein ligase 1) Enables enzyme binding activity; ubiquitin-protein transferase activity; and zinc ion binding activity. Involved in protein ubiquitination. Located in Lewy body; cytoplasm; and nuclear body. Colocalizes with cullin-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARIH1 | NM_005744.5 | c.237_257dupCGGCGGCGGCGGCGGCGGCGG | p.Gly80_Gly86dup | disruptive_inframe_insertion | 1/14 | ENST00000379887.9 | NP_005735.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARIH1 | ENST00000379887.9 | c.237_257dupCGGCGGCGGCGGCGGCGGCGG | p.Gly80_Gly86dup | disruptive_inframe_insertion | 1/14 | 1 | NM_005744.5 | ENSP00000369217.4 | ||
ARIH1 | ENST00000564062.1 | c.231_251dupCGGCGGCGGCGGCGGCGGCGG | p.Gly78_Gly84dup | disruptive_inframe_insertion | 1/4 | 3 | ENSP00000454774.1 | |||
TMEM202-AS1 | ENST00000565181.1 | n.275_295dupGCCGCCGCCGCCGCCGCCGCC | non_coding_transcript_exon_variant | 1/1 | 6 | |||||
ARIH1 | ENST00000570085.5 | n.237_257dupCGGCGGCGGCGGCGGCGGCGG | non_coding_transcript_exon_variant | 1/5 | 3 | ENSP00000456746.1 |
Frequencies
GnomAD3 genomes AF: 0.00000668 AC: 1AN: 149696Hom.: 0 Cov.: 32
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GnomAD4 exome Cov.: 30
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GnomAD4 genome AF: 0.00000668 AC: 1AN: 149696Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73034
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ClinVar
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at