17-42967552-T-G

Variant names:

• chr17-42967552-T-G
• rs188757965
• ENST00000421990.7:c.432+2737A>C

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

The NM_001136042.2(PTGES3L-AARSD1):​c.561+2737A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.000087 (0 hom., cov: 29)
  • Failed GnomAD Quality Control
• Consequence: PTGES3L-AARSD1 NM_001136042.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.169

Genes affected

PTGES3L-AARSD1 (HGNC:43946): (PTGES3L-AARSD1 readthrough) This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, May 2012]

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PTGES3L-AARSD1	NM_001136042.2	c.561+2737A>C		intron_variant	Intron 6 of 16		NP_001129514.2
PTGES3L-AARSD1	NM_025267.4	c.378+2737A>C		intron_variant	Intron 6 of 16		NP_079543.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PTGES3L-AARSD1	ENST00000421990.7	c.432+2737A>C		intron_variant	Intron 6 of 16	2		ENSP00000409924.2

Frequencies

GnomAD3 genomes AF: 0.00 AC: 11 AN: 137400 Hom.: 0 Cov.: 29 FAILED QC

Gnomad AFR AF: 0.000275

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0000814

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000873 AC: 12 AN: 137394 Hom.: 0 Cov.: 29 AF XY: 0.000122 AC XY: 8 AN XY: 65632

Gnomad4 AFR AF: 0.000302

Gnomad4 AMR AF: 0.0000813

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00

Gnomad4 OTH AF: 0.00

Alfa AF: 0.000165 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.9
DANN	Benign	0.17

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

LitVar

Other links and lift over

dbSNP: rs188757965; hg19: chr17-41119569;