NM_004951.5:c.-19+2972A>G

Variant names:

• chr13-99304368-T-C
• rs9557195
• NM_004951.5:c.-19+2972A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_004951.5(GPR183):​c.-19+2972A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.164 in 152,134 control chromosomes in the GnomAD database, including 2,357 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.16 (2357 hom., cov: 32)
• Consequence: GPR183 NM_004951.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.34
• Publications: 32 publications found

Genes affected

GPR183 (HGNC:3128): (G protein-coupled receptor 183) This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]

UBAC2 (HGNC:20486): (UBA domain containing 2) Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of retrograde protein transport, ER to cytosol. Acts upstream of or within protein localization to endoplasmic reticulum. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.216 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_004951.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GPR183	NM_004951.5	MANE Select	c.-19+2972A>G		intron	N/A	NP_004942.1
	UBAC2	NM_001144072.2	MANE Select	c.390-9729T>C		intron	N/A	NP_001137544.1
	UBAC2	NM_177967.4		c.285-9729T>C		intron	N/A	NP_808882.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GPR183	ENST00000376414.5	TSL:1 MANE Select	c.-19+2972A>G		intron	N/A	ENSP00000365596.4
	UBAC2	ENST00000403766.8	TSL:2 MANE Select	c.390-9729T>C		intron	N/A	ENSP00000383911.3
	UBAC2	ENST00000961156.1		c.390-885T>C		intron	N/A	ENSP00000631215.1

Frequencies

GnomAD3 genomes AF: 0.165 AC: 25008 AN: 152016 Hom.: 2354 Cov.: 32

Gnomad AFR AF: 0.0893

Gnomad AMI AF: 0.322

Gnomad AMR AF: 0.175

Gnomad ASJ AF: 0.263

Gnomad EAS AF: 0.0576

Gnomad SAS AF: 0.122

Gnomad FIN AF: 0.113

Gnomad MID AF: 0.222

Gnomad NFE AF: 0.219

Gnomad OTH AF: 0.201

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.164 AC: 25012 AN: 152134 Hom.: 2357 Cov.: 32 AF XY: 0.160 AC XY: 11905 AN XY: 74368

African (AFR) AF: 0.0892 AC: 3706 AN: 41528

American (AMR) AF: 0.175 AC: 2673 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.263 AC: 911 AN: 3466

East Asian (EAS) AF: 0.0578 AC: 299 AN: 5176

South Asian (SAS) AF: 0.123 AC: 591 AN: 4810

European-Finnish (FIN) AF: 0.113 AC: 1196 AN: 10578

Middle Eastern (MID) AF: 0.228 AC: 67 AN: 294

European-Non Finnish (NFE) AF: 0.219 AC: 14858 AN: 67968

Other (OTH) AF: 0.199 AC: 419 AN: 2108

Alfa AF: 0.199 Hom.: 6635

Bravo AF: 0.169

Asia WGS AF: 0.0710 AC: 247 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.17
DANN	Benign	0.30
PhyloP100		-2.3
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs9557195; hg19: chr13-99956622;