rs7327929

Positions:

• chr13-106510512-A-G
• chr13-106510512-A-T

Variant summary

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

The NM_004093.4(EFNB2):​c.406+2017T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.495 in 152,158 control chromosomes in the GnomAD database, including 19,655 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 0.50 (19655 hom., cov: 33)
• Consequence: EFNB2 NM_004093.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.74

Genes affected

EFNB2 (HGNC:3227): (ephrin B2) This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.579 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
EFNB2	NM_004093.4	c.406+2017T>C		intron_variant		ENST00000646441.1	NP_004084.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
EFNB2	ENST00000646441.1	c.406+2017T>C		intron_variant			NM_004093.4	ENSP00000493716	P1
	ENST00000646480.1	n.497-5621A>G		intron_variant, non_coding_transcript_variant
EFNB2	ENST00000643990.1	n.10+5926T>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.495 AC: 75282 AN: 152040 Hom.: 19646 Cov.: 33

Gnomad AFR AF: 0.330

Gnomad AMI AF: 0.618

Gnomad AMR AF: 0.506

Gnomad ASJ AF: 0.442

Gnomad EAS AF: 0.597

Gnomad SAS AF: 0.496

Gnomad FIN AF: 0.628

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.566

Gnomad OTH AF: 0.497

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

GnomAD4 genome AF: 0.495 AC: 75330 AN: 152158 Hom.: 19655 Cov.: 33 AF XY: 0.501 AC XY: 37273 AN XY: 74374

Gnomad4 AFR AF: 0.330

Gnomad4 AMR AF: 0.506

Gnomad4 ASJ AF: 0.442

Gnomad4 EAS AF: 0.597

Gnomad4 SAS AF: 0.498

Gnomad4 FIN AF: 0.628

Gnomad4 NFE AF: 0.566

Gnomad4 OTH AF: 0.500

Alfa AF: 0.533 Hom.: 4536

Bravo AF: 0.476

Asia WGS AF: 0.542 AC: 1881 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.075
DANN	Benign	0.54

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: rs7327929; hg19: chr13-107162860;