rs10518814

Variant names:

• chr15-69363207-A-T
• rs10518814
• NM_017705.4:c.51+3076A>T

Variant summary

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

The NM_017705.4(PAQR5):​c.51+3076A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0287 in 152,298 control chromosomes in the GnomAD database, including 126 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 0.029 (126 hom., cov: 32)
• Consequence: PAQR5 NM_017705.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.181
• Publications: 2 publications found

Genes affected

PAQR5 (HGNC:29645): (progestin and adipoQ receptor family member 5) Predicted to enable signaling receptor activity. Predicted to be involved in oogenesis. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [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=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.102 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PAQR5	NM_017705.4	c.51+3076A>T		intron_variant	Intron 3 of 8	ENST00000395407.7	NP_060175.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PAQR5	ENST00000395407.7	c.51+3076A>T		intron_variant	Intron 3 of 8	1	NM_017705.4	ENSP00000378803.2

Frequencies

GnomAD3 genomes AF: 0.0286 AC: 4346 AN: 152180 Hom.: 123 Cov.: 32

Gnomad AFR AF: 0.0412

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0520

Gnomad ASJ AF: 0.0268

Gnomad EAS AF: 0.109

Gnomad SAS AF: 0.0379

Gnomad FIN AF: 0.0301

Gnomad MID AF: 0.0222

Gnomad NFE AF: 0.00910

Gnomad OTH AF: 0.0263

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

GnomAD4 genome AF: 0.0287 AC: 4369 AN: 152298 Hom.: 126 Cov.: 32 AF XY: 0.0303 AC XY: 2255 AN XY: 74460

African (AFR) AF: 0.0417 AC: 1731 AN: 41558

American (AMR) AF: 0.0520 AC: 795 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0268 AC: 93 AN: 3472

East Asian (EAS) AF: 0.109 AC: 564 AN: 5176

South Asian (SAS) AF: 0.0381 AC: 184 AN: 4828

European-Finnish (FIN) AF: 0.0301 AC: 320 AN: 10614

Middle Eastern (MID) AF: 0.0238 AC: 7 AN: 294

European-Non Finnish (NFE) AF: 0.00910 AC: 619 AN: 68036

Other (OTH) AF: 0.0265 AC: 56 AN: 2112

Alfa AF: 0.0190 Hom.: 11

Bravo AF: 0.0338

Asia WGS AF: 0.0830 AC: 287 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.77
DANN	Benign	0.30
PhyloP100		-0.18
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: rs10518814; hg19: chr15-69655546;