rs151344622
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_001142459.2(ASB10):c.225G>A(p.Ala75=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,613,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Genomes: 𝑓 0.000013 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000030 ( 0 hom. )
Consequence
ASB10
NM_001142459.2 synonymous
NM_001142459.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -4.17
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 Likely_benign. Variant got -5 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP7
?
Synonymous conserved (PhyloP=-4.17 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.225G>A | p.Ala75= | synonymous_variant | 1/6 | ENST00000420175.3 | |
ASB10 | NM_001142460.1 | c.225G>A | p.Ala75= | synonymous_variant | 1/5 | ||
ASB10 | NM_080871.4 | c.272-247G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.225G>A | p.Ala75= | synonymous_variant | 1/6 | 1 | NM_001142459.2 | P4 | |
ASB10 | ENST00000275838.5 | c.225G>A | p.Ala75= | synonymous_variant | 1/5 | 1 | |||
ASB10 | ENST00000377867.7 | c.272-247G>A | intron_variant | 2 | A1 | ||||
ASB10 | ENST00000415615.1 | c.*269G>A | 3_prime_UTR_variant, NMD_transcript_variant | 2/3 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152194Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249120Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134934
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GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461694Hom.: 0 Cov.: 35 AF XY: 0.0000275 AC XY: 20AN XY: 727158
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GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
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ClinVar
Significance: not provided
Submissions summary: Other:1
Revision: no classification provided
LINK: link
Submissions by phenotype
Glaucoma 1, open angle, F Other:1
not provided, no classification provided | literature only | Casey Eye Institute Glaucoma Genetics Lab | - | - - |
Computational scores
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BayesDel_noAF
Benign
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Dann
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at