12-110436687-GA-GAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001278556.2(ARPC3):c.253-13_253-5dupTTTTTTTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ARPC3
NM_001278556.2 splice_region, intron
NM_001278556.2 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.29
Genes affected
ARPC3 (HGNC:706): (actin related protein 2/3 complex subunit 3) This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARPC3 | NM_001278556.2 | c.253-13_253-5dupTTTTTTTTT | splice_region_variant, intron_variant | Intron 4 of 6 | ENST00000228825.12 | NP_001265485.1 | ||
ARPC3 | NM_001287222.2 | c.253-13_253-5dupTTTTTTTTT | splice_region_variant, intron_variant | Intron 4 of 6 | NP_001274151.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 85732Hom.: 0 Cov.: 0 FAILED QC
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GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 721308Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 374820
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GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 85732Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 39992
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ClinVar
Not reported inComputational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at