rs17239726

Positions:

• chr9-115009233-G-A

Variant summary

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

The ENST00000649121.1(DELEC1):​n.78+39572G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.143 in 152,162 control chromosomes in the GnomAD database, including 1,736 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 0.14 (1736 hom., cov: 33)
• Consequence: DELEC1 ENST00000649121.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.29

Genes affected

DELEC1 (HGNC:23658): (deleted in esophageal cancer 1) The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.209 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DELEC1	ENST00000649121.1	n.78+39572G>A		intron_variant, non_coding_transcript_variant
DELEC1	ENST00000648852.1	n.276+39572G>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.143 AC: 21801 AN: 152044 Hom.: 1736 Cov.: 33

Gnomad AFR AF: 0.0753

Gnomad AMI AF: 0.337

Gnomad AMR AF: 0.112

Gnomad ASJ AF: 0.0715

Gnomad EAS AF: 0.220

Gnomad SAS AF: 0.149

Gnomad FIN AF: 0.181

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.182

Gnomad OTH AF: 0.117

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

GnomAD4 genome AF: 0.143 AC: 21795 AN: 152162 Hom.: 1736 Cov.: 33 AF XY: 0.142 AC XY: 10563 AN XY: 74376

Gnomad4 AFR AF: 0.0751

Gnomad4 AMR AF: 0.112

Gnomad4 ASJ AF: 0.0715

Gnomad4 EAS AF: 0.220

Gnomad4 SAS AF: 0.148

Gnomad4 FIN AF: 0.181

Gnomad4 NFE AF: 0.182

Gnomad4 OTH AF: 0.116

Alfa AF: 0.172 Hom.: 1073

Bravo AF: 0.134

Asia WGS AF: 0.207 AC: 718 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.13
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: rs17239726; hg19: chr9-117771512;