rs4144615

Variant names:

• chr11-86941819-G-A
• rs4144615
• ENST00000532234.5:n.*64+2693G>A

Your query was ambiguous. Multiple possible variants found:

• chr11-86941819-G-A
• chr11-86941819-G-T

Variant summary

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

The ENST00000533902.2(PRSS23):​c.207-9397G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.552 in 151,996 control chromosomes in the GnomAD database, including 23,674 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 0.55 (23674 hom., cov: 31)
• Consequence: PRSS23 ENST00000533902.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.703
• Publications: 1 publications found

Genes affected

PRSS23 (HGNC:14370): (serine protease 23) This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.614 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000533902.2. 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
	PRSS23	NR_120591.3		n.434+2693G>A		intron	N/A
	PRSS23	NR_120592.2		n.328-9397G>A		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PRSS23	ENST00000532234.5	TSL:1	n.*64+2693G>A		intron	N/A	ENSP00000436676.1	E9PIB7
	PRSS23	ENST00000533902.2	TSL:4	c.207-9397G>A		intron	N/A	ENSP00000437268.1	E9PMX2
	PRSS23	ENST00000528769.5	TSL:2	n.128+906G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.552 AC: 83912 AN: 151878 Hom.: 23670 Cov.: 31

Gnomad AFR AF: 0.441

Gnomad AMI AF: 0.746

Gnomad AMR AF: 0.568

Gnomad ASJ AF: 0.656

Gnomad EAS AF: 0.433

Gnomad SAS AF: 0.495

Gnomad FIN AF: 0.564

Gnomad MID AF: 0.671

Gnomad NFE AF: 0.618

Gnomad OTH AF: 0.584

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

GnomAD4 genome AF: 0.552 AC: 83939 AN: 151996 Hom.: 23674 Cov.: 31 AF XY: 0.550 AC XY: 40835 AN XY: 74312

African (AFR) AF: 0.441 AC: 18278 AN: 41444

American (AMR) AF: 0.568 AC: 8682 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.656 AC: 2275 AN: 3468

East Asian (EAS) AF: 0.433 AC: 2238 AN: 5164

South Asian (SAS) AF: 0.495 AC: 2387 AN: 4826

European-Finnish (FIN) AF: 0.564 AC: 5947 AN: 10544

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.619 AC: 42033 AN: 67956

Other (OTH) AF: 0.577 AC: 1218 AN: 2112

Alfa AF: 0.477 Hom.: 1459

Bravo AF: 0.550

Asia WGS AF: 0.465 AC: 1618 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	2.4
DANN	Benign	0.67
PhyloP100		-0.70
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs4144615;

hg19: chr11-86652861;