chr19-12669194-G-A

Variant summary

Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7

The NM_016145.4(WDR83OS):​c.90C>T​(p.Asp30Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: not found (cov: 32)

Consequence

WDR83OS
NM_016145.4 synonymous

Scores

2

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.151
Variant links:
Genes affected
WDR83OS (HGNC:30203): (WD repeat domain 83 opposite strand) Enables protein folding chaperone. Involved in protein insertion into ER membrane. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
WDR83 (HGNC:32672): (WD repeat domain 83) This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -5 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.61).
BP6
Variant 19-12669194-G-A is Benign according to our data. Variant chr19-12669194-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 3649985.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-0.151 with no splicing effect.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
WDR83OSNM_016145.4 linkc.90C>T p.Asp30Asp synonymous_variant Exon 2 of 4 ENST00000596731.7 NP_057229.1 Q9Y284
WDR83NM_001099737.3 linkc.-36-561G>A intron_variant Intron 2 of 10 ENST00000418543.8 NP_001093207.1 Q9BRX9
WDR83NR_029375.2 linkn.307-561G>A intron_variant Intron 2 of 10

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
WDR83OSENST00000596731.7 linkc.90C>T p.Asp30Asp synonymous_variant Exon 2 of 4 1 NM_016145.4 ENSP00000468969.1 Q9Y284
ENSG00000269590ENST00000597961.1 linkc.84C>T p.Asp28Asp synonymous_variant Exon 2 of 5 4 ENSP00000472710.1 M0R2P5
WDR83ENST00000418543.8 linkc.-36-561G>A intron_variant Intron 2 of 10 1 NM_001099737.3 ENSP00000402653.3 Q9BRX9
ENSG00000285589ENST00000648033.1 linkn.*4024C>T non_coding_transcript_exon_variant Exon 12 of 14 ENSP00000498000.1 A0A3B3IU31
ENSG00000285589ENST00000648033.1 linkn.*4024C>T 3_prime_UTR_variant Exon 12 of 14 ENSP00000498000.1 A0A3B3IU31

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
Cov.:
32
GnomAD4 genome
Cov.:
32

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Nov 11, 2024
Labcorp Genetics (formerly Invitae), Labcorp
Significance: Likely benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing

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Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.61
CADD
Benign
12
DANN
Benign
0.94
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.7

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr19-12780008; API