rs2257073
Positions:
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001142459.2(ASB10):c.584+192G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.257 in 152,106 control chromosomes in the GnomAD database, including 5,132 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.26 ( 5132 hom., cov: 32)
Consequence
ASB10
NM_001142459.2 intron
NM_001142459.2 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.162
Genes affected
ASB10 (HGNC:17185): (ankyrin repeat and SOCS box containing 10) The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BP6
?
Variant 7-151186200-C-T is Benign according to our data. Variant chr7-151186200-C-T is described in ClinVar as [Benign]. Clinvar id is 1248058.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.275 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.584+192G>A | intron_variant | ENST00000420175.3 | |||
ASB10 | NM_001142460.1 | c.584+192G>A | intron_variant | ||||
ASB10 | NM_080871.4 | c.539+192G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.584+192G>A | intron_variant | 1 | NM_001142459.2 | P4 | |||
ASB10 | ENST00000275838.5 | c.584+192G>A | intron_variant | 1 | |||||
ASB10 | ENST00000377867.7 | c.539+192G>A | intron_variant | 2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.257 AC: 39027AN: 151988Hom.: 5130 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.257 AC: 39051AN: 152106Hom.: 5132 Cov.: 32 AF XY: 0.251 AC XY: 18670AN XY: 74378
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564
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3478
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 26, 2018 | - - |
Computational scores
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Name
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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