rs10424878

Variant names:

• chr19-50871711-A-G
• rs10424878
• ENST00000596950.5:n.113+854A>G

Your query was ambiguous. Multiple possible variants found:

• chr19-50871711-A-G
• chr19-50871711-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000593493.5(KLK2):​c.-332-1472A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.605 in 152,032 control chromosomes in the GnomAD database, including 27,935 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 0.60 (27935 hom., cov: 32)
• Consequence: KLK2 ENST00000593493.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.43

Genes affected

KLK2 (HGNC:6363): (kallikrein related peptidase 2) This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.765 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
KLK2	ENST00000596950.5	n.113+854A>G		intron_variant	Intron 1 of 3	1
KLK2	ENST00000593493.5	c.-332-1472A>G		intron_variant	Intron 1 of 3	3		ENSP00000472852.1
KLK2	ENST00000595375.5	n.149+962A>G		intron_variant	Intron 1 of 2	4
KLK2	ENST00000597509.5	n.243+854A>G		intron_variant	Intron 1 of 3	4

Frequencies

GnomAD3 genomes AF: 0.605 AC: 91863 AN: 151914 Hom.: 27918 Cov.: 32

Gnomad AFR AF: 0.641

Gnomad AMI AF: 0.535

Gnomad AMR AF: 0.617

Gnomad ASJ AF: 0.581

Gnomad EAS AF: 0.785

Gnomad SAS AF: 0.567

Gnomad FIN AF: 0.620

Gnomad MID AF: 0.487

Gnomad NFE AF: 0.570

Gnomad OTH AF: 0.589

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

GnomAD4 genome AF: 0.605 AC: 91922 AN: 152032 Hom.: 27935 Cov.: 32 AF XY: 0.605 AC XY: 44982 AN XY: 74320

Gnomad4 AFR AF: 0.640

Gnomad4 AMR AF: 0.616

Gnomad4 ASJ AF: 0.581

Gnomad4 EAS AF: 0.785

Gnomad4 SAS AF: 0.567

Gnomad4 FIN AF: 0.620

Gnomad4 NFE AF: 0.570

Gnomad4 OTH AF: 0.595

Alfa AF: 0.573 Hom.: 24034

Bravo AF: 0.606

Asia WGS AF: 0.712 AC: 2477 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.26
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10424878; hg19: chr19-51374967;