rs927375

chr9-114935667-G-Achr9-114935667-G-C

Variant summary

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

The ENST00000648852.1(DELEC1):n.198+14069G>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 0.517 in 152,032 control chromosomes in the GnomAD database, including 21,483 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 0.52 (21483 hom., cov: 32)
• Consequence: DELEC1 ENST00000648852.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.852

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=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.674 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DELEC1	ENST00000648852.1	n.198+14069G>A		intron_variant, non_coding_transcript_variant
DELEC1	ENST00000649565.1	n.226-33917G>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.517 AC: 78490 AN: 151914 Hom.: 21429 Cov.: 32

Gnomad AFR AF: 0.680

Gnomad AMI AF: 0.613

Gnomad AMR AF: 0.622

Gnomad ASJ AF: 0.433

Gnomad EAS AF: 0.412

Gnomad SAS AF: 0.439

Gnomad FIN AF: 0.465

Gnomad MID AF: 0.396

Gnomad NFE AF: 0.420

Gnomad OTH AF: 0.485

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

GnomAD4 genome AF: 0.517 AC: 78610 AN: 152032 Hom.: 21483 Cov.: 32 AF XY: 0.521 AC XY: 38708 AN XY: 74308

Gnomad4 AFR AF: 0.681

Gnomad4 AMR AF: 0.623

Gnomad4 ASJ AF: 0.433

Gnomad4 EAS AF: 0.412

Gnomad4 SAS AF: 0.438

Gnomad4 FIN AF: 0.465

Gnomad4 NFE AF: 0.420

Gnomad4 OTH AF: 0.488

Alfa AF: 0.481 Hom.: 2316

Bravo AF: 0.539

Asia WGS AF: 0.499 AC: 1728 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	1.3
Dann	Benign	0.87

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs927375; hg19: chr9-117697947;