rs11940017

Variant names:

• chr4-102499602-T-C
• rs11940017
• ENST00000843825.1:n.49+2837A>G

Variant summary

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

The ENST00000843825.1(ENSG00000248161):​n.49+2837A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.125 in 152,170 control chromosomes in the GnomAD database, including 2,362 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 0.12 (2362 hom., cov: 32)
• Consequence: ENSG00000248161 ENST00000843825.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.812
• Publications: 4 publications found

Genes affected

ENSG00000248161 (HGNC:58149):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.318 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NFKB1-AS1	NR_136202.1	n.48+2837A>G		intron_variant	Intron 1 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000248161	ENST00000843825.1	n.49+2837A>G		intron_variant	Intron 1 of 2

Frequencies

GnomAD3 genomes AF: 0.125 AC: 18977 AN: 152052 Hom.: 2355 Cov.: 32

Gnomad AFR AF: 0.322

Gnomad AMI AF: 0.0702

Gnomad AMR AF: 0.0624

Gnomad ASJ AF: 0.0176

Gnomad EAS AF: 0.0523

Gnomad SAS AF: 0.0408

Gnomad FIN AF: 0.0648

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.0469

Gnomad OTH AF: 0.101

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

GnomAD4 genome AF: 0.125 AC: 19008 AN: 152170 Hom.: 2362 Cov.: 32 AF XY: 0.122 AC XY: 9105 AN XY: 74402

African (AFR) AF: 0.322 AC: 13354 AN: 41460

American (AMR) AF: 0.0623 AC: 953 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0176 AC: 61 AN: 3470

East Asian (EAS) AF: 0.0519 AC: 269 AN: 5184

South Asian (SAS) AF: 0.0414 AC: 200 AN: 4828

European-Finnish (FIN) AF: 0.0648 AC: 687 AN: 10604

Middle Eastern (MID) AF: 0.0578 AC: 17 AN: 294

European-Non Finnish (NFE) AF: 0.0469 AC: 3193 AN: 68014

Other (OTH) AF: 0.0996 AC: 210 AN: 2108

Alfa AF: 0.0739 Hom.: 197

Bravo AF: 0.135

Asia WGS AF: 0.0660 AC: 229 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.14
DANN	Benign	0.36
PhyloP100		-0.81

Splicing

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

Other links and lift over

dbSNP: rs11940017; hg19: chr4-103420759;