chr10-5953149-A-G
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Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_002189.4(IL15RA):āc.750T>Cā(p.Thr250=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00524 in 1,614,200 control chromosomes in the GnomAD database, including 31 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Genomes: š 0.0037 ( 1 hom., cov: 33)
Exomes š: 0.0054 ( 30 hom. )
Consequence
IL15RA
NM_002189.4 synonymous
NM_002189.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -2.61
Genes affected
IL15RA (HGNC:5978): (interleukin 15 receptor subunit alpha) This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BP6
Variant 10-5953149-A-G is Benign according to our data. Variant chr10-5953149-A-G is described in ClinVar as [Likely_benign]. Clinvar id is 2640291.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-2.61 with no splicing effect.
BS2
High Homozygotes in GnomAdExome4 at 30 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL15RA | NM_002189.4 | c.750T>C | p.Thr250= | synonymous_variant | 7/7 | ENST00000379977.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL15RA | ENST00000379977.8 | c.750T>C | p.Thr250= | synonymous_variant | 7/7 | 1 | NM_002189.4 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00366 AC: 557AN: 152222Hom.: 1 Cov.: 33
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GnomAD3 exomes AF: 0.00384 AC: 958AN: 249370Hom.: 9 AF XY: 0.00407 AC XY: 549AN XY: 134952
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GnomAD4 exome AF: 0.00540 AC: 7898AN: 1461860Hom.: 30 Cov.: 31 AF XY: 0.00538 AC XY: 3910AN XY: 727234
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GnomAD4 genome AF: 0.00366 AC: 557AN: 152340Hom.: 1 Cov.: 33 AF XY: 0.00358 AC XY: 267AN XY: 74502
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2023 | IL15RA: BP4, BP7, BS2 - |
Computational scores
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Benign
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DANN
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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