rs10496034

Positions:

• chr2-54917798-G-C

Variant summary

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

The NM_001039753.4(EML6):​c.3675+863G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0763 in 151,992 control chromosomes in the GnomAD database, including 695 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 0.076 (695 hom., cov: 32)
• Consequence: EML6 NM_001039753.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.267

Genes affected

EML6 (HGNC:35412): (EMAP like 6) Predicted to enable microtubule binding activity. Predicted to be located in cytoplasm and microtubule. [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=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.206 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
EML6	NM_001039753.4	c.3675+863G>C		intron_variant		ENST00000356458.8	NP_001034842.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
EML6	ENST00000356458.8	c.3675+863G>C		intron_variant		5	NM_001039753.4	ENSP00000348842	P1
EML6	ENST00000673912.1	c.3675+863G>C		intron_variant, NMD_transcript_variant				ENSP00000501234

Frequencies

GnomAD3 genomes AF: 0.0762 AC: 11572 AN: 151874 Hom.: 689 Cov.: 32

Gnomad AFR AF: 0.0343

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.167

Gnomad ASJ AF: 0.0998

Gnomad EAS AF: 0.206

Gnomad SAS AF: 0.216

Gnomad FIN AF: 0.0422

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.0665

Gnomad OTH AF: 0.0788

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

GnomAD4 genome AF: 0.0763 AC: 11596 AN: 151992 Hom.: 695 Cov.: 32 AF XY: 0.0800 AC XY: 5946 AN XY: 74298

Gnomad4 AFR AF: 0.0345

Gnomad4 AMR AF: 0.168

Gnomad4 ASJ AF: 0.0998

Gnomad4 EAS AF: 0.205

Gnomad4 SAS AF: 0.217

Gnomad4 FIN AF: 0.0422

Gnomad4 NFE AF: 0.0666

Gnomad4 OTH AF: 0.0789

Alfa AF: 0.0695 Hom.: 70

Bravo AF: 0.0844

Asia WGS AF: 0.210 AC: 732 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	3.5
DANN	Benign	0.28

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: rs10496034; hg19: chr2-55144935;