chr1-44649688-G-A
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Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_018150.4(RNF220):c.1473G>A(p.Thr491=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00423 in 1,614,010 control chromosomes in the GnomAD database, including 23 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0027 ( 2 hom., cov: 33)
Exomes 𝑓: 0.0044 ( 21 hom. )
Consequence
RNF220
NM_018150.4 synonymous
NM_018150.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.528
Genes affected
RNF220 (HGNC:25552): (ring finger protein 220) Predicted to enable ubiquitin protein ligase activity. Involved in positive regulation of canonical Wnt signaling pathway. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
TMEM53 (HGNC:26186): (transmembrane protein 53) Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -9 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.42).
BP6
Variant 1-44649688-G-A is Benign according to our data. Variant chr1-44649688-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 2638774.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-0.528 with no splicing effect.
BS2
High Homozygotes in GnomAd4 at 2 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNF220 | NM_018150.4 | c.1473G>A | p.Thr491= | synonymous_variant | 13/15 | ENST00000361799.7 | NP_060620.2 | |
LOC107984950 | XR_001738031.2 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF220 | ENST00000361799.7 | c.1473G>A | p.Thr491= | synonymous_variant | 13/15 | 1 | NM_018150.4 | ENSP00000354872 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00268 AC: 408AN: 152106Hom.: 2 Cov.: 33
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GnomAD3 exomes AF: 0.00235 AC: 592AN: 251418Hom.: 2 AF XY: 0.00234 AC XY: 318AN XY: 135880
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GnomAD4 exome AF: 0.00439 AC: 6424AN: 1461786Hom.: 21 Cov.: 31 AF XY: 0.00416 AC XY: 3026AN XY: 727204
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GnomAD4 genome AF: 0.00268 AC: 408AN: 152224Hom.: 2 Cov.: 33 AF XY: 0.00238 AC XY: 177AN XY: 74448
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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 | Sep 01, 2023 | RNF220: BP4, BP7, BS2 - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at