rs7716399

Positions:

• chr5-158723638-T-C
• chr5-158723638-T-G

Variant summary

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

The NM_024007.5(EBF1):​c.1125+7431A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.852 in 152,092 control chromosomes in the GnomAD database, including 55,372 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 0.85 (55372 hom., cov: 30)
• Consequence: EBF1 NM_024007.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.932

Genes affected

EBF1 (HGNC:3126): (EBF transcription factor 1) Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.963 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
EBF1	NM_024007.5	c.1125+7431A>G		intron_variant		ENST00000313708.11	NP_076870.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
EBF1	ENST00000313708.11	c.1125+7431A>G		intron_variant		1	NM_024007.5	ENSP00000322898	P1

Frequencies

GnomAD3 genomes AF: 0.852 AC: 129488 AN: 151974 Hom.: 55325 Cov.: 30

Gnomad AFR AF: 0.905

Gnomad AMI AF: 0.930

Gnomad AMR AF: 0.859

Gnomad ASJ AF: 0.865

Gnomad EAS AF: 0.985

Gnomad SAS AF: 0.883

Gnomad FIN AF: 0.838

Gnomad MID AF: 0.826

Gnomad NFE AF: 0.806

Gnomad OTH AF: 0.860

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

GnomAD4 genome AF: 0.852 AC: 129592 AN: 152092 Hom.: 55372 Cov.: 30 AF XY: 0.856 AC XY: 63634 AN XY: 74338

Gnomad4 AFR AF: 0.905

Gnomad4 AMR AF: 0.858

Gnomad4 ASJ AF: 0.865

Gnomad4 EAS AF: 0.985

Gnomad4 SAS AF: 0.882

Gnomad4 FIN AF: 0.838

Gnomad4 NFE AF: 0.806

Gnomad4 OTH AF: 0.861

Alfa AF: 0.817 Hom.: 28768

Bravo AF: 0.855

Asia WGS AF: 0.932 AC: 3242 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.75
DANN	Benign	0.38

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs7716399; hg19: chr5-158150646;