chr1-71015115-A-G

Variant names:

• chr1-71015115-A-G
• rs3765894
• NM_198719.2:c.898-2631T>C

Variant summary

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

The NM_198719.2(PTGER3):​c.898-2631T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.332 in 151,820 control chromosomes in the GnomAD database, including 9,041 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 0.33 (9041 hom., cov: 32)
• Consequence: PTGER3 NM_198719.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.657
• Publications: 9 publications found

Genes affected

PTGER3 (HGNC:9595): (prostaglandin E receptor 3) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.438 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_198719.2. 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
	PTGER3	NM_198719.2	MANE Select	c.898-2631T>C		intron	N/A	NP_942012.1	P43115-1
	PTGER3	NM_198718.2		c.898-2631T>C		intron	N/A	NP_942011.1	P43115-5
	PTGER3	NM_001126044.2		c.898-2631T>C		intron	N/A	NP_001119516.1	P43115-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PTGER3	ENST00000306666.10	TSL:1 MANE Select	c.898-2631T>C		intron	N/A	ENSP00000302313.5	P43115-1
	PTGER3	ENST00000356595.8	TSL:1	c.898-2631T>C		intron	N/A	ENSP00000349003.4	P43115-5
	PTGER3	ENST00000370931.7	TSL:1	c.898-2631T>C		intron	N/A	ENSP00000359969.3	P43115-1

Frequencies

GnomAD3 genomes AF: 0.332 AC: 50352 AN: 151702 Hom.: 9045 Cov.: 32

Gnomad AFR AF: 0.188

Gnomad AMI AF: 0.385

Gnomad AMR AF: 0.341

Gnomad ASJ AF: 0.330

Gnomad EAS AF: 0.288

Gnomad SAS AF: 0.454

Gnomad FIN AF: 0.409

Gnomad MID AF: 0.358

Gnomad NFE AF: 0.399

Gnomad OTH AF: 0.340

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

GnomAD4 genome AF: 0.332 AC: 50339 AN: 151820 Hom.: 9041 Cov.: 32 AF XY: 0.335 AC XY: 24827 AN XY: 74152

African (AFR) AF: 0.188 AC: 7761 AN: 41386

American (AMR) AF: 0.341 AC: 5194 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.330 AC: 1144 AN: 3470

East Asian (EAS) AF: 0.288 AC: 1483 AN: 5154

South Asian (SAS) AF: 0.454 AC: 2185 AN: 4816

European-Finnish (FIN) AF: 0.409 AC: 4287 AN: 10488

Middle Eastern (MID) AF: 0.347 AC: 102 AN: 294

European-Non Finnish (NFE) AF: 0.399 AC: 27121 AN: 67936

Other (OTH) AF: 0.337 AC: 712 AN: 2112

Alfa AF: 0.387 Hom.: 7827

Bravo AF: 0.316

Asia WGS AF: 0.382 AC: 1331 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.88
DANN	Benign	0.50
PhyloP100		-0.66
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: rs3765894; hg19: chr1-71480798;