rs980317

Positions:

• chr2-114953359-T-C

Variant summary

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

The NM_020868.6(DPP10):​c.61-355880T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.248 in 151,982 control chromosomes in the GnomAD database, including 5,077 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 0.25 (5077 hom., cov: 31)
• Consequence: DPP10 NM_020868.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.215

Genes affected

DPP10 (HGNC:20823): (dipeptidyl peptidase like 10) This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.369 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DPP10	NM_020868.6	c.61-355880T>C		intron_variant		ENST00000410059.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DPP10	ENST00000410059.6	c.61-355880T>C		intron_variant		1	NM_020868.6	A1
DPP10	ENST00000409163.5	c.-90-355880T>C		intron_variant		2
DPP10	ENST00000436732.5	c.-162-96789T>C		intron_variant		4
DPP10	ENST00000461250.5	n.654+246185T>C		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.248 AC: 37719 AN: 151864 Hom.: 5075 Cov.: 31

Gnomad AFR AF: 0.140

Gnomad AMI AF: 0.394

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.283

Gnomad EAS AF: 0.276

Gnomad SAS AF: 0.383

Gnomad FIN AF: 0.332

Gnomad MID AF: 0.389

Gnomad NFE AF: 0.274

Gnomad OTH AF: 0.291

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

GnomAD4 genome AF: 0.248 AC: 37733 AN: 151982 Hom.: 5077 Cov.: 31 AF XY: 0.254 AC XY: 18862 AN XY: 74258

Gnomad4 AFR AF: 0.139

Gnomad4 AMR AF: 0.296

Gnomad4 ASJ AF: 0.283

Gnomad4 EAS AF: 0.276

Gnomad4 SAS AF: 0.383

Gnomad4 FIN AF: 0.332

Gnomad4 NFE AF: 0.274

Gnomad4 OTH AF: 0.292

Alfa AF: 0.281 Hom.: 3196

Bravo AF: 0.236

Asia WGS AF: 0.344 AC: 1197 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	5.3
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs980317; hg19: chr2-115710936;