rs2015983
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_212556.4(ASB18):c.206-121T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.783 in 1,163,224 control chromosomes in the GnomAD database, including 357,981 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.76 ( 44162 hom., cov: 32)
Exomes 𝑓: 0.79 ( 313819 hom. )
Consequence
ASB18
NM_212556.4 intron
NM_212556.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0980
Genes affected
ASB18 (HGNC:19770): (ankyrin repeat and SOCS box containing 18) The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.98).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.798 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB18 | NM_212556.4 | c.206-121T>G | intron_variant | ENST00000409749.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB18 | ENST00000409749.8 | c.206-121T>G | intron_variant | 1 | NM_212556.4 | P1 | |||
GBX2-AS1 | ENST00000415226.1 | n.224-17984A>C | intron_variant, non_coding_transcript_variant | 4 | |||||
ASB18 | ENST00000430053.1 | c.206-3567T>G | intron_variant | 5 | |||||
ASB18 | ENST00000645891.1 | upstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.758 AC: 115208AN: 151974Hom.: 44132 Cov.: 32
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GnomAD3 exomes AF: 0.801 AC: 127696AN: 159386Hom.: 51300 AF XY: 0.803 AC XY: 68499AN XY: 85258
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GnomAD4 exome AF: 0.787 AC: 795496AN: 1011132Hom.: 313819 Cov.: 13 AF XY: 0.789 AC XY: 407419AN XY: 516204
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GnomAD4 genome ? AF: 0.758 AC: 115287AN: 152092Hom.: 44162 Cov.: 32 AF XY: 0.764 AC XY: 56785AN XY: 74342
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at