chr1-44645070-C-T

Variant summary

Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2

The NM_018150.4(RNF220):​c.1299C>T​(p.Gly433=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00557 in 1,614,076 control chromosomes in the GnomAD database, including 44 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: 𝑓 0.0035 ( 2 hom., cov: 32)
Exomes 𝑓: 0.0058 ( 42 hom. )

Consequence

RNF220
NM_018150.4 synonymous

Scores

2

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: -4.15
Variant links:
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]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -11 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.69).
BP6
Variant 1-44645070-C-T is Benign according to our data. Variant chr1-44645070-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 2638773.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-4.15 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
RNF220NM_018150.4 linkuse as main transcriptc.1299C>T p.Gly433= synonymous_variant 10/15 ENST00000361799.7 NP_060620.2
LOC107984950XR_001738031.2 linkuse as main transcriptn.4307+290G>A intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
RNF220ENST00000361799.7 linkuse as main transcriptc.1299C>T p.Gly433= synonymous_variant 10/151 NM_018150.4 ENSP00000354872 P1Q5VTB9-1

Frequencies

GnomAD3 genomes
AF:
0.00355
AC:
540
AN:
152102
Hom.:
2
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00121
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00295
Gnomad ASJ
AF:
0.0130
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.0108
Gnomad FIN
AF:
0.000377
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00493
Gnomad OTH
AF:
0.00431
GnomAD3 exomes
AF:
0.00553
AC:
1390
AN:
251142
Hom.:
15
AF XY:
0.00565
AC XY:
767
AN XY:
135772
show subpopulations
Gnomad AFR exome
AF:
0.000801
Gnomad AMR exome
AF:
0.00501
Gnomad ASJ exome
AF:
0.0133
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00853
Gnomad FIN exome
AF:
0.000972
Gnomad NFE exome
AF:
0.00660
Gnomad OTH exome
AF:
0.00636
GnomAD4 exome
AF:
0.00578
AC:
8443
AN:
1461858
Hom.:
42
Cov.:
32
AF XY:
0.00581
AC XY:
4227
AN XY:
727228
show subpopulations
Gnomad4 AFR exome
AF:
0.000806
Gnomad4 AMR exome
AF:
0.00458
Gnomad4 ASJ exome
AF:
0.0129
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00849
Gnomad4 FIN exome
AF:
0.00124
Gnomad4 NFE exome
AF:
0.00607
Gnomad4 OTH exome
AF:
0.00505
GnomAD4 genome
AF:
0.00355
AC:
540
AN:
152218
Hom.:
2
Cov.:
32
AF XY:
0.00384
AC XY:
286
AN XY:
74416
show subpopulations
Gnomad4 AFR
AF:
0.00120
Gnomad4 AMR
AF:
0.00294
Gnomad4 ASJ
AF:
0.0130
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.0108
Gnomad4 FIN
AF:
0.000377
Gnomad4 NFE
AF:
0.00493
Gnomad4 OTH
AF:
0.00426
Alfa
AF:
0.00511
Hom.:
0
Bravo
AF:
0.00395
Asia WGS
AF:
0.00433
AC:
15
AN:
3478
EpiCase
AF:
0.00513
EpiControl
AF:
0.00545

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 submitterclinical testingCeGaT Center for Human Genetics TuebingenJan 01, 2023RNF220: BP4, BP7, BS2 -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.69
CADD
Benign
2.6
DANN
Benign
0.76
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.7

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.040
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs116503928; hg19: chr1-45110742; COSMIC: COSV100132308; COSMIC: COSV100132308; API