5-95506915-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_014639.4(SKIC3):c.3092+19C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00239 in 1,611,510 control chromosomes in the GnomAD database, including 73 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.012 ( 39 hom., cov: 32)
Exomes 𝑓: 0.0014 ( 34 hom. )
Consequence
SKIC3
NM_014639.4 intron
NM_014639.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.206
Genes affected
SKIC3 (HGNC:23639): (SKI3 subunit of superkiller complex) This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BP6
?
Variant 5-95506915-G-C is Benign according to our data. Variant chr5-95506915-G-C is described in ClinVar as [Likely_benign]. Clinvar id is 445953.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0122 (1858/151958) while in subpopulation AFR AF= 0.0418 (1731/41448). AF 95% confidence interval is 0.0401. There are 39 homozygotes in gnomad4. There are 892 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 38 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SKIC3 | NM_014639.4 | c.3092+19C>G | intron_variant | ENST00000358746.7 | |||
SKIC3 | XM_047417937.1 | c.3092+19C>G | intron_variant | ||||
SKIC3 | XM_047417938.1 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SKIC3 | ENST00000358746.7 | c.3092+19C>G | intron_variant | 1 | NM_014639.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0122 AC: 1847AN: 151840Hom.: 38 Cov.: 32
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GnomAD3 exomes AF: 0.00344 AC: 861AN: 250598Hom.: 15 AF XY: 0.00266 AC XY: 360AN XY: 135500
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GnomAD4 exome AF: 0.00137 AC: 1997AN: 1459552Hom.: 34 Cov.: 30 AF XY: 0.00123 AC XY: 896AN XY: 726214
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GnomAD4 genome ? AF: 0.0122 AC: 1858AN: 151958Hom.: 39 Cov.: 32 AF XY: 0.0120 AC XY: 892AN XY: 74264
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Aug 24, 2017 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
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